SAV1 — 38 ClinVar variants
All ClinVar germline SAV1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 35 flagged for review →
2 Likely benign · 36 Uncertain significance
Full SAV1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 35
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 27
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- SAV1 p.Ala100Ser Uncertain significance Single submitter
- SAV1 p.Arg146Gln Uncertain significance Single submitter
- SAV1 p.Arg146Trp Uncertain significance Single submitter
- SAV1 p.Arg151Cys Uncertain significance Single submitter
- SAV1 p.Arg157Gly Uncertain significance Single submitter
- SAV1 p.Asn382Ile Uncertain significance Single submitter
- SAV1 p.Asn9Ser Uncertain significance Single submitter
- SAV1 p.Asp208Asn Uncertain significance Single submitter
- SAV1 p.Gln167Arg Uncertain significance Single submitter
- SAV1 p.Gln290His Uncertain significance Single submitter
- SAV1 p.Glu364Gly Uncertain significance Single submitter
- SAV1 p.His194Gln Uncertain significance Single submitter
- SAV1 p.Ile218Arg Uncertain significance Single submitter
- SAV1 p.Ile218Met Uncertain significance Single submitter
- SAV1 p.Ile50Thr Uncertain significance Single submitter
- SAV1 p.Ile78Val Uncertain significance Single submitter
- SAV1 p.Leu99Phe Uncertain significance Single submitter
-
SAV1 p.Pro202Ser
Uncertain significance
Single submitter
hereditary breast ovarian cancer syndrome
- SAV1 p.Pro57Leu Uncertain significance Single submitter
- SAV1 p.Ser291Phe Uncertain significance Single submitter
- SAV1 p.Thr192Ala Uncertain significance Single submitter
- SAV1 p.Thr224Ala Uncertain significance Single submitter
- SAV1 p.Tyr156Cys Uncertain significance Single submitter
- SAV1 p.Tyr158His Uncertain significance Single submitter
- SAV1 p.Tyr262Ser Uncertain significance Single submitter
- SAV1 p.Val124Ala Uncertain significance Single submitter
- SAV1 p.Val270Ile Uncertain significance Single submitter
Predictors split 8
The independent predictors disagree with each other — read with care.
- SAV1 p.Arg39Trp Uncertain significance Single submitter
- SAV1 p.Glu247Lys Uncertain significance Single submitter
- SAV1 p.Lys13Met Uncertain significance Single submitter
- SAV1 p.Met34Arg Uncertain significance Single submitter
- SAV1 p.Met34Thr Uncertain significance Single submitter
- SAV1 p.Pro203Ser Uncertain significance Single submitter
- SAV1 p.Thr43Ala Uncertain significance Single submitter
- SAV1 p.Tyr335Cys Uncertain significance Single submitter
All SAV1 variants
Likely benign 2
- p.Ala152Val Single submitter
- p.Lys145Arg Single submitter
Uncertain significance 36
- p.Ala100Ser Single submitter ⚠
- p.Arg146Gln Single submitter ⚠
- p.Arg146Trp Single submitter ⚠
- p.Arg151Cys Single submitter ⚠
- p.Arg157Gly Single submitter ⚠
- p.Arg39Trp Single submitter ⚠
- p.Asn382Ile Single submitter ⚠
- p.Asn9Ser Single submitter ⚠
- p.Asp208Asn Single submitter ⚠
- p.Gln167Arg Single submitter ⚠
- p.Gln290His Single submitter ⚠
- p.Glu247Lys Single submitter ⚠
- p.Glu364Gly Single submitter ⚠
- p.His194Gln Single submitter ⚠
- p.Ile218Arg Single submitter ⚠
- p.Ile218Met Single submitter ⚠
- p.Ile50Thr Single submitter ⚠
- p.Ile78Val Single submitter ⚠
- p.Leu99Phe Single submitter ⚠
- p.Lys13Met Single submitter ⚠
- p.Met34Arg Single submitter ⚠
- p.Met34Thr Single submitter ⚠
- p.Pro202Ser Single submitter hereditary breast ovarian cancer syndrome ⚠
- p.Pro203Ser Single submitter ⚠
- p.Pro57Leu Single submitter ⚠
- p.Ser112Phe Single submitter
- p.Ser291Phe Single submitter ⚠
- p.Thr192Ala Single submitter ⚠
- p.Thr224Ala Single submitter ⚠
- p.Thr43Ala Single submitter ⚠
- p.Tyr156Cys Single submitter ⚠
- p.Tyr158His Single submitter ⚠
- p.Tyr262Ser Single submitter ⚠
- p.Tyr335Cys Single submitter ⚠
- p.Val124Ala Single submitter ⚠
- p.Val270Ile Single submitter ⚠