TDP1 — 210 ClinVar variants
All ClinVar germline TDP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 79 flagged for review →
1 Pathogenic · 1 Pathogenic/Likely pathogenic · 3 Likely pathogenic · 1 Conflicting · 53 Benign · 5 Benign/Likely benign · 21 Likely benign · 125 Uncertain significance
Full TDP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 79
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors lean, ClinVar uncertain 48
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
TDP1 p.Ala253Thr
Uncertain significance
Multiple submitters
spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
-
TDP1 p.Ala597Val
Uncertain significance
Multiple submitters
spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
- TDP1 p.Arg361Cys Uncertain significance Multiple submitters
-
TDP1 p.Arg448Gln
Uncertain significance
Multiple submitters
spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
-
TDP1 p.Arg448Trp
Uncertain significance
Multiple submitters
spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
- TDP1 p.Glu579Lys Uncertain significance Multiple submitters
-
TDP1 p.His239Arg
Uncertain significance
Multiple submitters
spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
-
TDP1 p.Leu255Trp
Uncertain significance
Multiple submitters
spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
- TDP1 p.Lys432Gln Uncertain significance Multiple submitters
- TDP1 p.Met567Ile Uncertain significance Multiple submitters
-
TDP1 p.Thr600Met
Uncertain significance
Multiple submitters
spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
- TDP1 p.Ala389Val Uncertain significance Single submitter
- TDP1 p.Ala490Gly Uncertain significance Single submitter
- TDP1 p.Ala515Thr Uncertain significance Single submitter
- TDP1 p.Arg276Trp Uncertain significance Single submitter
-
TDP1 p.Arg487Cys
Uncertain significance
Single submitter
spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
- TDP1 p.Arg487His Uncertain significance Single submitter
- TDP1 p.Arg487Pro Uncertain significance Single submitter
- TDP1 p.Asn283Ser Uncertain significance Single submitter
- TDP1 p.Asn516Asp Uncertain significance Single submitter
- TDP1 p.Glu246Lys Uncertain significance Single submitter
- TDP1 p.Glu273Asp Uncertain significance Single submitter
- TDP1 p.Glu349Lys Uncertain significance Single submitter
- TDP1 p.Glu418Lys Uncertain significance Single submitter
- TDP1 p.Gly431Glu Uncertain significance Single submitter
- TDP1 p.Gly523Arg Uncertain significance Single submitter
- TDP1 p.Gly540Arg Uncertain significance Single submitter
- TDP1 p.His493Tyr Uncertain significance Single submitter
- TDP1 p.His601Arg Uncertain significance Single submitter
- TDP1 p.Lys221Thr Uncertain significance Single submitter
- TDP1 p.Lys292Asn Uncertain significance Single submitter
- TDP1 p.Lys376Arg Uncertain significance Single submitter
- TDP1 p.Lys519Asn Uncertain significance Single submitter
- TDP1 p.Lys519Glu Uncertain significance Single submitter
- TDP1 p.Met267Ile Uncertain significance Single submitter
- TDP1 p.Met328Val Uncertain significance Single submitter
- TDP1 p.Phe510Ser Uncertain significance Single submitter
- TDP1 p.Pro217Leu Uncertain significance Single submitter
- TDP1 p.Thr281Ala Uncertain significance Single submitter
- TDP1 p.Thr350Arg Uncertain significance Single submitter
-
TDP1 p.Trp509Cys
Uncertain significance
Single submitter
spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
-
TDP1 p.Tyr215His
Uncertain significance
Single submitter
spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
- TDP1 p.Tyr302His Uncertain significance Single submitter
- TDP1 p.Tyr462Cys Uncertain significance Single submitter
- TDP1 p.Tyr581His Uncertain significance Single submitter
- TDP1 p.Val197Ile Uncertain significance Single submitter
- TDP1 p.Val395Ile Uncertain significance Single submitter
-
TDP1 p.Val401Phe
Uncertain significance
Single submitter
spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
Predictors split 31
The independent predictors disagree with each other — read with care.
-
TDP1 p.Ala389Thr
Benign/Likely benign
Multiple submitters
spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
-
TDP1 p.Arg304Gln
Benign/Likely benign
Multiple submitters
spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
- TDP1 p.Ile589Met Uncertain significance Multiple submitters
-
TDP1 p.Leu439Phe
Uncertain significance
Multiple submitters
spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
- TDP1 p.Lys417Glu Uncertain significance Multiple submitters
- TDP1 p.Phe219Leu Uncertain significance Multiple submitters
-
TDP1 p.Pro333Leu
Uncertain significance
Multiple submitters
spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
-
TDP1 p.Pro598Leu
Uncertain significance
Multiple submitters
spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
- TDP1 p.Pro607Ala Uncertain significance Multiple submitters
-
TDP1 p.Ser583Gly
Uncertain significance
Multiple submitters
spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
- TDP1 p.Tyr438Asn Uncertain significance Multiple submitters
- TDP1 p.Ala524Thr Uncertain significance Single submitter
- TDP1 p.Arg232Gln Uncertain significance Single submitter
- TDP1 p.Arg586Trp Uncertain significance Single submitter
- TDP1 p.Asn446Ser Uncertain significance Single submitter
- TDP1 p.Asp346Asn Uncertain significance Single submitter
- TDP1 p.Glu390Gly Uncertain significance Single submitter
- TDP1 p.Ile296Met Uncertain significance Single submitter
- TDP1 p.Ile305Thr Uncertain significance Single submitter
- TDP1 p.Ile324Phe Uncertain significance Single submitter
- TDP1 p.Leu268Val Uncertain significance Single submitter
- TDP1 p.Leu327Val Uncertain significance Single submitter
- TDP1 p.Leu525Val Uncertain significance Single submitter
- TDP1 p.Lys344Asn Uncertain significance Single submitter
- TDP1 p.Phe416Leu Uncertain significance Single submitter
- TDP1 p.Phe504Leu Uncertain significance Single submitter
- TDP1 p.Pro191Leu Uncertain significance Single submitter
- TDP1 p.Pro244Arg Uncertain significance Single submitter
- TDP1 p.Ser199Ala Uncertain significance Single submitter
- TDP1 p.Ser385Phe Uncertain significance Single submitter
- TDP1 p.Ser433Gly Uncertain significance Single submitter
All TDP1 variants
Pathogenic 1
- p.His493Arg Multiple submitters spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
Pathogenic/Likely pathogenic 1
- p.Arg304Ter Multiple submitters spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
Likely pathogenic 3
- c.1731_1753+646del Single submitter
- p.Trp210Ter Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
- p.Gln531Ter No assertion criteria
Conflicting classifications of pathogenicity 1
- p.Thr600= Single submitter
Benign 53
- c.1053-173A>G Multiple submitters
- c.1131+38T>A Multiple submitters
- c.1317+26G>A Multiple submitters
- c.1318-30C>T Multiple submitters
- c.1366+78C>G Multiple submitters
- c.1366+79G>T Multiple submitters
- c.1367-78T>A Multiple submitters
- c.1645-126C>G Multiple submitters
- c.1753+237T>C Multiple submitters
- c.560-65G>A Multiple submitters
- c.603+118A>G Multiple submitters
- c.603+81C>T Multiple submitters
- c.791+155C>T Multiple submitters
- c.791+38A>G Multiple submitters
- c.791+52A>G Multiple submitters
- c.791+58C>T Multiple submitters
- c.792-52A>G Multiple submitters
- c.792-81A>G Multiple submitters
- c.-21C>T Multiple submitters spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
- c.-224A>G Multiple submitters spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
- c.-230-14C>A Multiple submitters spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
- c.*1448G>A Multiple submitters spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
- c.*1452C>T Multiple submitters spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
- c.*1460C>G Multiple submitters spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
- c.*393T>C Multiple submitters spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
- c.*77C>T Multiple submitters spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
- p.Asn369= Multiple submitters spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
- p.Gln366= Multiple submitters spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
- p.Pro359= Multiple submitters spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
- p.Val512= Multiple submitters
- c.1052+206A>T Single submitter
- c.1131+184_1131+185del Single submitter
- c.1132-210C>T Single submitter
- c.1317+118del Single submitter
- c.1317+118dup Single submitter
- c.1317+11G>A Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
- c.1318-163A>G Single submitter
- c.1434-151T>C Single submitter
- c.660-162A>T Single submitter
- c.756+128T>C Single submitter
- c.756+265G>C Single submitter
- c.757-194T>G Single submitter
- c.757-196T>G Single submitter
- c.884+94dup Single submitter
- c.885-151T>G Single submitter
- c.-177C>T Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
- c.-230-4G>T Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
- c.-7-282T>C Single submitter
- c.*1105A>G Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
- c.*539G>A Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
- c.*598G>A Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
- c.*799A>G Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
- p.Arg374= Single submitter
Benign/Likely benign 5
- c.1366+10G>A Multiple submitters spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
- p.Ala258= Multiple submitters
- p.Ala389Thr Multiple submitters spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 ⚠
- p.Arg304Gln Multiple submitters spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 ⚠
- p.Thr569Ala Multiple submitters spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
Likely benign 21
- c.1132-143T>A Multiple submitters
- c.1366+48G>A Multiple submitters
- c.1645-168C>T Multiple submitters
- c.757-62T>C Multiple submitters
- c.1367-201C>T Single submitter
- c.1433+166T>C Single submitter
- c.1541+11C>T Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
- c.1542-6C>T Single submitter
- c.1754-82A>G Single submitter
- c.604-4C>G Single submitter
- c.660-191C>T Single submitter
- c.*1430G>C Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
- c.*1618T>C Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
- c.*599G>C Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
- c.*932C>T Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
- p.Asp207= Single submitter
- p.Leu335= Single submitter
- p.Thr195= Single submitter
- c.1317+20G>A No assertion criteria
- c.1754-7C>A No assertion criteria TDP1-related disorder
- p.Leu412= No assertion criteria TDP1-related disorder
Uncertain significance 125
- p.Ala253Thr Multiple submitters spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 ⚠
- p.Ala597Val Multiple submitters spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 ⚠
- p.Arg361Cys Multiple submitters ⚠
- p.Arg448Gln Multiple submitters spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 ⚠
- p.Arg448Trp Multiple submitters spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 ⚠
- p.Glu579Lys Multiple submitters ⚠
- p.His239Arg Multiple submitters spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 ⚠
- p.His263= Multiple submitters spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
- p.Ile589Met Multiple submitters ⚠
- p.Leu255Trp Multiple submitters spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 ⚠
- p.Leu439Phe Multiple submitters spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 ⚠
- p.Lys417Glu Multiple submitters ⚠
- p.Lys432Gln Multiple submitters ⚠
- p.Met567Ile Multiple submitters ⚠
- p.Phe219Leu Multiple submitters ⚠
- p.Pro333Leu Multiple submitters spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 ⚠
- p.Pro598Leu Multiple submitters spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 ⚠
- p.Pro607Ala Multiple submitters ⚠
- p.Ser583Gly Multiple submitters spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 ⚠
- p.Thr600Met Multiple submitters spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 ⚠
- p.Tyr438Asn Multiple submitters ⚠
- c.1434-3T>G Single submitter
- c.1434-9T>C Single submitter
- c.1754-9T>C Single submitter
- c.604-6A>G Single submitter
- c.660-1G>A Single submitter
- c.756+9C>T Single submitter
- c.884+5G>A Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
- c.885-15T>C Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
- c.-242T>G Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
- c.-243C>T Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
- c.-264G>A Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
- c.-275C>G Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
- c.-278C>T Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
- c.-292G>T Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
- c.-38G>A Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
- c.-55C>G Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
- c.-76T>C Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
- c.-8+15T>C Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
- c.*1015G>A Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
- c.*1099G>A Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
- c.*1200G>A Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
- c.*1203G>T Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
- c.*1239T>C Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
- c.*134A>C Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
- c.*1355G>A Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
- c.*135T>C Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
- c.*1367A>G Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
- c.*1399T>A Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
- c.*1511C>G Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
- c.*228T>G Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
- c.*264G>T Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
- c.*37T>C Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
- c.*496G>A Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
- c.*631C>T Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
- c.*774G>A Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
- c.*776T>C Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
- c.*801G>A Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
- c.*904C>T Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
- c.*945C>T Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
- c.*950C>T Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
- p.Ala389Val Single submitter ⚠
- p.Ala490Gly Single submitter ⚠
- p.Ala515Thr Single submitter ⚠
- p.Ala524Thr Single submitter ⚠
- p.Arg232Gln Single submitter ⚠
- p.Arg276Trp Single submitter ⚠
- p.Arg487Cys Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 ⚠
- p.Arg487His Single submitter ⚠
- p.Arg487Pro Single submitter ⚠
- p.Arg586Trp Single submitter ⚠
- p.Asn283Ser Single submitter ⚠
- p.Asn446Ser Single submitter ⚠
- p.Asn516Asp Single submitter ⚠
- p.Asp346Asn Single submitter ⚠
- p.Glu246Lys Single submitter ⚠
- p.Glu273Asp Single submitter ⚠
- p.Glu349Lys Single submitter ⚠
- p.Glu390Gly Single submitter ⚠
- p.Glu418Lys Single submitter ⚠
- p.Gly431Glu Single submitter ⚠
- p.Gly523Arg Single submitter ⚠
- p.Gly540Arg Single submitter ⚠
- p.His262fs Single submitter
- p.His493Tyr Single submitter ⚠
- p.His601Arg Single submitter ⚠
- p.Ile296Met Single submitter ⚠
- p.Ile305Thr Single submitter ⚠
- p.Ile324Phe Single submitter ⚠
- p.Leu268Val Single submitter ⚠
- p.Leu327Val Single submitter ⚠
- p.Leu439= Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
- p.Leu525Val Single submitter ⚠
- p.Lys221Thr Single submitter ⚠
- p.Lys292Asn Single submitter ⚠
- p.Lys344Asn Single submitter ⚠
- p.Lys376Arg Single submitter ⚠
- p.Lys519Asn Single submitter ⚠
- p.Lys519Glu Single submitter ⚠
- p.Met267Ile Single submitter ⚠
- p.Met328Val Single submitter ⚠
- p.Phe416Leu Single submitter ⚠
- p.Phe504Leu Single submitter ⚠
- p.Phe510Ser Single submitter ⚠
- p.Pro191Leu Single submitter ⚠
- p.Pro217Leu Single submitter ⚠
- p.Pro244Arg Single submitter ⚠
- p.Pro461= Single submitter
- p.Ser199Ala Single submitter ⚠
- p.Ser299fs Single submitter
- p.Ser385Phe Single submitter ⚠
- p.Ser433Gly Single submitter ⚠
- p.Thr281Ala Single submitter ⚠
- p.Thr350Arg Single submitter ⚠
- p.Trp509Cys Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 ⚠
- p.Tyr215His Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 ⚠
- p.Tyr302His Single submitter ⚠
- p.Tyr441Ter Single submitter
- p.Tyr462Cys Single submitter ⚠
- p.Tyr537Ter Single submitter
- p.Tyr581His Single submitter ⚠
- p.Val197Ile Single submitter ⚠
- p.Val395Ile Single submitter ⚠
- p.Val401Phe Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 ⚠
- p.Glu565= No assertion criteria myoepithelial tumor