GAPVD1 — 61 ClinVar variants
All ClinVar germline GAPVD1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 9 flagged for review →
18 Benign · 1 Benign/Likely benign · 31 Likely benign · 11 Uncertain significance
Full GAPVD1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 9
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 4
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
GAPVD1 p.Arg1306Trp
Uncertain significance
Single submitter
GAPVD1-related Nephrotic syndrome
-
GAPVD1 p.Arg487His
Uncertain significance
Single submitter
GAPVD1-related disorder
- GAPVD1 p.Glu255Gly Uncertain significance Single submitter
-
GAPVD1 p.Ile1456Val
Uncertain significance
Single submitter
GAPVD1-related disorder
Predictors split 5
The independent predictors disagree with each other — read with care.
- GAPVD1 p.Val284Met Benign/Likely benign Multiple submitters
-
GAPVD1 p.Arg564His
Uncertain significance
Single submitter
GAPVD1-related disorder
- GAPVD1 p.Glu1030Lys Uncertain significance Single submitter
-
GAPVD1 p.Ser112Phe
Uncertain significance
No assertion criteria
GAPVD1-related disorder
-
GAPVD1 p.Val586Ala
Likely benign
No assertion criteria
GAPVD1-related disorder
All GAPVD1 variants
Benign 18
- c.1030-46T>C Multiple submitters
- c.1251+51G>A Multiple submitters
- c.1441+68G>C Multiple submitters
- c.1733-44T>C Multiple submitters
- c.1858+10A>G Multiple submitters
- c.3410-96G>A Multiple submitters
- c.3570-116A>G Multiple submitters
- c.3972-107A>G Multiple submitters
- c.4243-87A>T Multiple submitters
- p.Ala376= Multiple submitters
- p.Asn461Ser Multiple submitters
- p.Lys369= Multiple submitters
- p.Ser966= Multiple submitters
- p.Thr199= Multiple submitters
- c.1603-123A>C Single submitter
- c.186-4_186-3del No assertion criteria GAPVD1-related disorder
- p.Ile506= No assertion criteria FAM157B-related disorder
- p.Pro931Ser No assertion criteria GAPVD1-related disorder
Benign/Likely benign 1
- p.Val284Met Multiple submitters ⚠
Likely benign 31
- p.Arg57= Single submitter
- p.Leu89= Single submitter
- p.Pro854fs Single submitter autism spectrum disorder
- p.Pro944Ser Single submitter
- p.Thr1258= Single submitter
- c.1251+7G>A No assertion criteria GAPVD1-related disorder
- c.1441+17G>T No assertion criteria GAPVD1-related disorder
- c.1442-8T>C No assertion criteria GAPVD1-related disorder
- c.2428+10G>A No assertion criteria GAPVD1-related disorder
- c.2429-1777A>T No assertion criteria GAPVD1-related disorder
- c.2506+6C>G No assertion criteria GAPVD1-related disorder
- p.Ala1102Ser No assertion criteria GAPVD1-related disorder
- p.Ala882Pro No assertion criteria GAPVD1-related disorder
- p.Asn1175= No assertion criteria GAPVD1-related disorder
- p.Asn1286= No assertion criteria GAPVD1-related disorder
- p.Asp646= No assertion criteria GAPVD1-related disorder
- p.Glu732= No assertion criteria GAPVD1-related disorder
- p.His877= No assertion criteria GAPVD1-related disorder
- p.Leu1380= No assertion criteria GAPVD1-related disorder
- p.Leu341= No assertion criteria GAPVD1-related disorder
- p.Lys119= No assertion criteria GAPVD1-related disorder
- p.Phe1312= No assertion criteria GAPVD1-related disorder
- p.Pro361= No assertion criteria GAPVD1-related disorder
- p.Pro843= No assertion criteria GAPVD1-related disorder
- p.Ser1087= No assertion criteria GAPVD1-related disorder
- p.Ser1384= No assertion criteria GAPVD1-related disorder
- p.Thr703= No assertion criteria GAPVD1-related disorder
- p.Thr751= No assertion criteria GAPVD1-related disorder
- p.Val1336= No assertion criteria GAPVD1-related disorder
- p.Val1376= No assertion criteria GAPVD1-related disorder
- p.Val586Ala No assertion criteria GAPVD1-related disorder ⚠
Uncertain significance 11
- c.2308+1G>A Single submitter
- c.3046+4del Single submitter
- p.Arg1306Trp Single submitter GAPVD1-related Nephrotic syndrome ⚠
- p.Arg487His Single submitter GAPVD1-related disorder ⚠
- p.Arg564His Single submitter GAPVD1-related disorder ⚠
- p.Glu1030Lys Single submitter ⚠
- p.Glu255Gly Single submitter ⚠
- p.Ile1456Val Single submitter GAPVD1-related disorder ⚠
- p.Leu612fs Single submitter
- p.Arg477Ter No assertion criteria
- p.Ser112Phe No assertion criteria GAPVD1-related disorder ⚠