THRA — 109 ClinVar variants
All ClinVar germline THRA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 44 flagged for review →
9 Pathogenic · 3 Pathogenic/Likely pathogenic · 9 Likely pathogenic · 4 Conflicting · 3 Benign · 4 Benign/Likely benign · 21 Likely benign · 56 Uncertain significance
Full THRA gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 44
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predicted LoF vs a conflicting call 1
ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.
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THRA c.54-1G>A
Conflicting
Single submitter
congenital nongoitrous hypothyroidism 6
Predictors lean, ClinVar uncertain 29
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
THRA p.Ala384Val
Uncertain significance
Single submitter
Inborn genetic diseases
- THRA p.Arg111Cys Uncertain significance Single submitter
-
THRA p.Arg135Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
THRA p.Arg142Leu
Uncertain significance
Single submitter
congenital nongoitrous hypothyroidism 6
-
THRA p.Arg189Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- THRA p.Arg266His Uncertain significance Single submitter
-
THRA p.Arg284Pro
Uncertain significance
Single submitter
congenital nongoitrous hypothyroidism 6
-
THRA p.Arg284Trp
Uncertain significance
Single submitter
congenital nongoitrous hypothyroidism 6
- THRA p.Arg329Cys Uncertain significance Single submitter
-
THRA p.Arg356Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- THRA p.Asn179Ser Uncertain significance Single submitter
- THRA p.Asp268Asn Uncertain significance Single submitter
-
THRA p.Asp272Asn
Uncertain significance
Single submitter
neurodevelopmental disorder
-
THRA p.Asp272Val
Uncertain significance
Single submitter
congenital nongoitrous hypothyroidism 6
-
THRA p.Cys96Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
THRA p.Glu245Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- THRA p.Gly24Arg Uncertain significance Single submitter
- THRA p.Gly290Asp Uncertain significance Single submitter
-
THRA p.Leu483Met
Uncertain significance
Single submitter
Inborn genetic diseases
- THRA p.Lys252Asn Uncertain significance Single submitter
- THRA p.Lys49Arg Uncertain significance Single submitter
-
THRA p.Pro205Leu
Uncertain significance
Single submitter
congenital nongoitrous hypothyroidism 6
- THRA p.Pro224Leu Uncertain significance Single submitter
- THRA p.Pro361Leu Uncertain significance Single submitter
- THRA p.Ser216Gly Uncertain significance Single submitter
- THRA p.Ser326Ala Uncertain significance Single submitter
- THRA p.Thr223Ile Uncertain significance Single submitter
-
THRA p.Val353Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
THRA p.Ser377Leu
Uncertain significance
No assertion criteria
congenital nongoitrous hypothyroidism 6
Predictors split 14
The independent predictors disagree with each other — read with care.
-
THRA p.Ala263Val
Pathogenic/Likely pathogenic
Multiple submitters
congenital nongoitrous hypothyroidism 6
- THRA p.Met238Thr Uncertain significance Multiple submitters
- THRA p.Ala214Gly Likely pathogenic Single submitter
- THRA p.Arg144Gln Uncertain significance Single submitter
-
THRA p.Asn84His
Uncertain significance
Single submitter
Inborn genetic diseases
-
THRA p.Asp100Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
THRA p.Gly207Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
THRA p.Ile299Thr
Likely pathogenic
Single submitter
congenital nongoitrous hypothyroidism 6
-
THRA p.Lys101Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
THRA p.Lys357Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
THRA p.Met259Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- THRA p.Phe349Leu Uncertain significance Single submitter
-
THRA p.Val118Met
Uncertain significance
Single submitter
Inborn genetic diseases
- THRA p.Val419Phe Uncertain significance Single submitter
All THRA variants
Pathogenic 9
- p.Arg384Cys Single submitter
- p.Arg384His Single submitter
- p.Cys380fs Single submitter Inborn genetic diseases
- p.Glu403Ter Single submitter
- p.Leu400fs Single submitter Inborn genetic diseases
- p.Ser473fs Single submitter congenital nongoitrous hypothyroidism 6
- p.Cys392Ter No assertion criteria congenital nongoitrous hypothyroidism 6
- p.Lys370Asn No assertion criteria congenital nongoitrous hypothyroidism 6
- p.Ser45Ile No assertion criteria congenital nongoitrous hypothyroidism 6
Pathogenic/Likely pathogenic 3
- p.Ala263Val Multiple submitters congenital nongoitrous hypothyroidism 6 ⚠
- p.Glu403Lys Multiple submitters THRA-related disorder
- p.Gly291Ser Multiple submitters THRA-related disorder
Likely pathogenic 9
- p.Ala214Gly Single submitter ⚠
- p.Glu173Gly Single submitter congenital nongoitrous hypothyroidism 6
- p.Gly291Asp Single submitter
- p.Gly378fs Single submitter neurodevelopmental disorder
- p.His381Tyr Single submitter congenital nongoitrous hypothyroidism 6
- p.Ile299Thr Single submitter congenital nongoitrous hypothyroidism 6 ⚠
- p.Leu274Arg Single submitter THRA-related disorder
- p.Thr273Asn Single submitter congenital nongoitrous hypothyroidism 6
- p.Tyr267Cys Single submitter THRA-related disorder
Conflicting classifications of pathogenicity 4
- c.53+6G>A Single submitter
- c.54-1G>A Single submitter congenital nongoitrous hypothyroidism 6 ⚠
- c.577-4C>T Single submitter
- p.Asp462= Single submitter
Benign 3
- p.Ala117= Multiple submitters
- p.Ser240= Multiple submitters
- c.223-8C>T Single submitter
Benign/Likely benign 4
- c.223-5C>G Multiple submitters
- p.Asp246= Multiple submitters
- p.Gly290= Multiple submitters
- p.Ile170Val Multiple submitters
Likely benign 21
- p.Asp50= Multiple submitters
- p.Glu285= Multiple submitters
- p.Leu400= Multiple submitters
- c.121+16C>T Single submitter
- c.371-4A>C Single submitter
- c.576+16G>T Single submitter
- c.724-3C>T Single submitter Inborn genetic diseases
- p.Ala121= Single submitter
- p.Ala263= Single submitter
- p.Arg284= Single submitter
- p.Asp166Gly Single submitter Inborn genetic diseases
- p.Glu163= Single submitter
- p.Gly331= Single submitter
- p.Ile99= Single submitter
- p.Leu402= Single submitter
- p.Lys147= Single submitter
- p.Lys59= Single submitter
- p.Pro205= Single submitter
- p.Pro399= Single submitter
- p.Tyr352= Single submitter
- p.Arg28Lys No assertion criteria THRA-related disorder
Uncertain significance 56
- p.Met238Thr Multiple submitters ⚠
- c.121+1G>A Single submitter congenital nongoitrous hypothyroidism 6
- c.-9T>G Single submitter
- p.Ala384Val Single submitter Inborn genetic diseases ⚠
- p.Arg111Cys Single submitter ⚠
- p.Arg135Cys Single submitter Inborn genetic diseases ⚠
- p.Arg142Leu Single submitter congenital nongoitrous hypothyroidism 6 ⚠
- p.Arg144Gln Single submitter ⚠
- p.Arg152Ter Single submitter
- p.Arg189Gln Single submitter Inborn genetic diseases ⚠
- p.Arg266His Single submitter ⚠
- p.Arg284Pro Single submitter congenital nongoitrous hypothyroidism 6 ⚠
- p.Arg284Trp Single submitter congenital nongoitrous hypothyroidism 6 ⚠
- p.Arg329Cys Single submitter ⚠
- p.Arg356Cys Single submitter Inborn genetic diseases ⚠
- p.Arg372Ter Single submitter Inborn genetic diseases
- p.Arg375His Single submitter
- p.Arg417Ter Single submitter congenital nongoitrous hypothyroidism 6
- p.Asn179Ser Single submitter ⚠
- p.Asn84His Single submitter Inborn genetic diseases ⚠
- p.Asp100Asn Single submitter Inborn genetic diseases ⚠
- p.Asp268Asn Single submitter ⚠
- p.Asp272Asn Single submitter neurodevelopmental disorder ⚠
- p.Asp272Val Single submitter congenital nongoitrous hypothyroidism 6 ⚠
- p.Cys96Phe Single submitter Inborn genetic diseases ⚠
- p.Glu245fs Single submitter
- p.Glu245Lys Single submitter Inborn genetic diseases ⚠
- p.Glu403Gln Single submitter
- p.Gly207Arg Single submitter Inborn genetic diseases ⚠
- p.Gly24Arg Single submitter ⚠
- p.Gly290Asp Single submitter ⚠
- p.Gly378Arg Single submitter
- p.Leu483Met Single submitter Inborn genetic diseases ⚠
- p.Lys101Arg Single submitter Inborn genetic diseases ⚠
- p.Lys147del Single submitter
- p.Lys252Asn Single submitter ⚠
- p.Lys29fs Single submitter
- p.Lys357Gln Single submitter Inborn genetic diseases ⚠
- p.Lys389Arg Single submitter
- p.Lys49Arg Single submitter ⚠
- p.Met259Thr Single submitter Inborn genetic diseases ⚠
- p.Phe349Leu Single submitter ⚠
- p.Pro205Leu Single submitter congenital nongoitrous hypothyroidism 6 ⚠
- p.Pro224Leu Single submitter ⚠
- p.Pro361Leu Single submitter ⚠
- p.Pro398Arg Single submitter Paediatric disorders
- p.Pro399Arg Single submitter
- p.Ser216Gly Single submitter ⚠
- p.Ser326Ala Single submitter ⚠
- p.Thr223Ile Single submitter ⚠
- p.Tyr65Ter Single submitter
- p.Val118Met Single submitter Inborn genetic diseases ⚠
- p.Val353Ile Single submitter Inborn genetic diseases ⚠
- p.Val419Phe Single submitter ⚠
- c.724-2A>G No assertion criteria THRA-related disorder
- p.Ser377Leu No assertion criteria congenital nongoitrous hypothyroidism 6 ⚠