LAMP1 — 75 ClinVar variants

All ClinVar germline LAMP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 59 flagged for review →

6 Benign · 1 Benign/Likely benign · 7 Likely benign · 61 Uncertain significance

Full LAMP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 59

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.

Predictors split 11

The independent predictors disagree with each other — read with care.

All LAMP1 variants

Benign 6

p.Gly36Asp Multiple submitters
p.Leu127Val Multiple submitters
c.562+4G>A Single submitter
p.Asp378= Single submitter
p.Leu75Pro Single submitter
p.Val399= Single submitter

Benign/Likely benign 1

p.Asn339= Multiple submitters

Likely benign 7

c.1114+12C>T Single submitter
c.562+12A>G Single submitter
p.Gly323Ser Single submitter
p.His411= Single submitter
p.Met32Val Single submitter
p.Tyr54= Single submitter
p.Val344Ile Single submitter

Uncertain significance 61

p.Arg326Gln Multiple submitters ⚠
p.Ile149Thr Multiple submitters ⚠
p.Val399Ile Multiple submitters ⚠
p.Ala201Thr Single submitter ⚠
p.Ala294Ser Single submitter ⚠
p.Ala2Val Single submitter ⚠
p.Ala327Val Single submitter ⚠
p.Ala340Val Single submitter ⚠
p.Ala40Thr Single submitter ⚠
p.Ala7Thr Single submitter ⚠
p.Arg254Ser Single submitter ⚠
p.Arg298Gln Single submitter ⚠
p.Arg407Ser Single submitter ⚠
p.Arg409Ser Single submitter ⚠
p.Arg8Gly Single submitter ⚠
p.Asn130Ile Single submitter ⚠
p.Asn130Ser Single submitter ⚠
p.Asn164Ser Single submitter ⚠
p.Asn181Ser Single submitter ⚠
p.Asp194Glu Single submitter ⚠
p.Cys25Trp Single submitter ⚠
p.Cys25Tyr Single submitter ⚠
p.Gln114Leu Single submitter ⚠
p.Gly21Ala Single submitter ⚠
p.Gly270Val Single submitter ⚠
p.Gly291Arg Single submitter ⚠
p.Gly370Asp Single submitter
p.Gly406Cys Single submitter ⚠
p.Ile258Val Single submitter ⚠
p.Leu18Pro Single submitter ⚠
p.Leu20Phe Single submitter ⚠
p.Leu273Met Single submitter ⚠
p.Leu310Ile Single submitter ⚠
p.Lys151Glu Single submitter ⚠
p.Met43Ile Single submitter ⚠
p.Phe46Leu Single submitter ⚠
p.Phe65Ser Single submitter ⚠
p.Pro214Ser Single submitter ⚠
p.Pro4Ser Single submitter ⚠
p.Ser133Pro Single submitter ⚠
p.Ser182Arg Single submitter ⚠
p.Ser218Pro Single submitter ⚠
p.Ser335Cys Single submitter ⚠
p.Ser351Leu Single submitter ⚠
p.Thr105Met Single submitter ⚠
p.Thr125Ser Single submitter ⚠
p.Thr169Met Single submitter ⚠
p.Thr227Ala Single submitter ⚠
p.Thr243Ile Single submitter ⚠
p.Thr250Ala Single submitter ⚠
p.Thr250Met Single submitter ⚠
p.Thr251Met Single submitter ⚠
p.Tyr120Asp Single submitter ⚠
p.Tyr178Cys Single submitter
p.Tyr244Cys Single submitter ⚠
p.Val113Ile Single submitter ⚠
p.Val168Ile Single submitter ⚠
p.Val285Ile Single submitter ⚠
p.Val346Ile Single submitter ⚠
p.Val405Ala Single submitter ⚠
p.Val91Met Single submitter ⚠