HSPA8 — 32 ClinVar variants
All ClinVar germline HSPA8 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 21 flagged for review →
4 Benign · 1 Likely benign · 27 Uncertain significance
Full HSPA8 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 21
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 8
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- HSPA8 p.Ala243Ser Uncertain significance Single submitter
- HSPA8 p.Gln347Lys Uncertain significance Single submitter
- HSPA8 p.Ile253Val Uncertain significance Single submitter
- HSPA8 p.Ile291Val Uncertain significance Single submitter
- HSPA8 p.Leu263Phe Uncertain significance Single submitter
- HSPA8 p.Phe625Tyr Uncertain significance Single submitter
- HSPA8 p.Thr608Ser Uncertain significance Single submitter
- HSPA8 p.Val553Ile Uncertain significance Single submitter
Predictors split 13
The independent predictors disagree with each other — read with care.
- HSPA8 p.Asn141Ser Uncertain significance Single submitter
- HSPA8 p.Glu498Gln Uncertain significance Single submitter
- HSPA8 p.Gly616Ser Uncertain significance Single submitter
- HSPA8 p.Gly619Arg Uncertain significance Single submitter
- HSPA8 p.Ile562Val Uncertain significance Single submitter
- HSPA8 p.Phe353Tyr Uncertain significance Single submitter
- HSPA8 p.Pro622Ser Uncertain significance Single submitter
- HSPA8 p.Ser281Asn Uncertain significance Single submitter
- HSPA8 p.Thr140Ser Uncertain significance Single submitter
- HSPA8 p.Thr462Ala Uncertain significance Single submitter
- HSPA8 p.Thr504Ser Uncertain significance Single submitter
- HSPA8 p.Val169Ile Uncertain significance Single submitter
- HSPA8 p.Val519Ile Uncertain significance Single submitter
All HSPA8 variants
Benign 4
Likely benign 1
- p.Gly615= Single submitter
Uncertain significance 27
- p.Ala243Ser Single submitter ⚠
- p.Ala307Val Single submitter
- p.Asn141Ser Single submitter ⚠
- p.Asp646_Ter647insAsp Single submitter Lennox-Gastaut syndrome
- p.Gln347Lys Single submitter ⚠
- p.Glu498Gln Single submitter ⚠
- p.Gly616Ser Single submitter ⚠
- p.Gly619Arg Single submitter ⚠
- p.Ile253Val Single submitter ⚠
- p.Ile291Val Single submitter ⚠
- p.Ile562Val Single submitter ⚠
- p.Leu263Phe Single submitter ⚠
- p.Met1Thr Single submitter
- p.Met449Val Single submitter
- p.Met87Arg Single submitter
- p.Phe353Tyr Single submitter ⚠
- p.Phe625Tyr Single submitter ⚠
- p.Pro622Ser Single submitter ⚠
- p.Ser281Asn Single submitter ⚠
- p.Thr140Ser Single submitter ⚠
- p.Thr462Ala Single submitter ⚠
- p.Thr504Ser Single submitter ⚠
- p.Thr552fs Single submitter
- p.Thr608Ser Single submitter ⚠
- p.Val169Ile Single submitter ⚠
- p.Val519Ile Single submitter ⚠
- p.Val553Ile Single submitter ⚠