ATG7 — 124 ClinVar variants
All ClinVar germline ATG7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 89 flagged for review →
7 Pathogenic · 1 Pathogenic/Likely pathogenic · 1 Likely pathogenic · 2 Conflicting · 3 Benign · 3 Benign/Likely benign · 17 Likely benign · 90 Uncertain significance
Full ATG7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 89
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 vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
ATG7 p.Gln261Arg
Pathogenic
No assertion criteria
spinocerebellar ataxia, autosomal recessive 31
Predictors agree, ClinVar conflicts 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
- ATG7 p.Asp522Glu Conflicting Single submitter
-
ATG7 p.Pro426Leu
Conflicting
Single submitter
spinocerebellar ataxia, autosomal recessive 31
Predictors lean, ClinVar uncertain 68
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ATG7 p.Ala121Val Uncertain significance Single submitter
- ATG7 p.Ala238Thr Uncertain significance Single submitter
- ATG7 p.Ala485Val Uncertain significance Single submitter
- ATG7 p.Ala61Gly Uncertain significance Single submitter
- ATG7 p.Ala666Val Uncertain significance Single submitter
- ATG7 p.Ala78Val Uncertain significance Single submitter
- ATG7 p.Arg269His Uncertain significance Single submitter
- ATG7 p.Arg420Gln Uncertain significance Single submitter
- ATG7 p.Arg455Cys Uncertain significance Single submitter
- ATG7 p.Arg455His Uncertain significance Single submitter
- ATG7 p.Arg566Trp Uncertain significance Single submitter
- ATG7 p.Arg611Gln Uncertain significance Single submitter
- ATG7 p.Arg611Trp Uncertain significance Single submitter
- ATG7 p.Arg627Gln Uncertain significance Single submitter
- ATG7 p.Arg632Trp Uncertain significance Single submitter
- ATG7 p.Arg659Gln Uncertain significance Single submitter
- ATG7 p.Asn434Ser Uncertain significance Single submitter
- ATG7 p.Asn542Ser Uncertain significance Single submitter
- ATG7 p.Asn554Ser Uncertain significance Single submitter
- ATG7 p.Asp351Glu Uncertain significance Single submitter
- ATG7 p.Glu181Gly Uncertain significance Single submitter
- ATG7 p.Glu191Lys Uncertain significance Single submitter
- ATG7 p.Glu286Lys Uncertain significance Single submitter
- ATG7 p.Glu701Asp Uncertain significance Single submitter
-
ATG7 p.Glu94Lys
Uncertain significance
Single submitter
spinocerebellar ataxia, autosomal recessive 31
- ATG7 p.Gly164Glu Uncertain significance Single submitter
- ATG7 p.Gly364Ser Uncertain significance Single submitter
- ATG7 p.Gly376Asp Uncertain significance Single submitter
- ATG7 p.Gly408Val Uncertain significance Single submitter
- ATG7 p.Gly409Asp Uncertain significance Single submitter
- ATG7 p.Gly432Val Uncertain significance Single submitter
- ATG7 p.Gly600Arg Uncertain significance Single submitter
- ATG7 p.His215Gln Uncertain significance Single submitter
- ATG7 p.His28Leu Uncertain significance Single submitter
- ATG7 p.Ile437Val Uncertain significance Single submitter
- ATG7 p.Ile626Val Uncertain significance Single submitter
- ATG7 p.Leu348Phe Uncertain significance Single submitter
- ATG7 p.Leu348Ser Uncertain significance Single submitter
-
ATG7 p.Leu421Phe
Uncertain significance
Single submitter
primary ovarian failure
- ATG7 p.Leu512Val Uncertain significance Single submitter
- ATG7 p.Lys34Asn Uncertain significance Single submitter
- ATG7 p.Met273Thr Uncertain significance Single submitter
- ATG7 p.Met697Ile Uncertain significance Single submitter
- ATG7 p.Phe219Ile Uncertain significance Single submitter
- ATG7 p.Phe403Ser Uncertain significance Single submitter
- ATG7 p.Phe643Leu Uncertain significance Single submitter
- ATG7 p.Pro296Ala Uncertain significance Single submitter
- ATG7 p.Pro577Ser Uncertain significance Single submitter
- ATG7 p.Pro75His Uncertain significance Single submitter
- ATG7 p.Pro75Ser Uncertain significance Single submitter
- ATG7 p.Ser11Thr Uncertain significance Single submitter
- ATG7 p.Ser262Cys Uncertain significance Single submitter
- ATG7 p.Ser391Phe Uncertain significance Single submitter
- ATG7 p.Ser448Asn Uncertain significance Single submitter
- ATG7 p.Ser467Thr Uncertain significance Single submitter
- ATG7 p.Ser608Gly Uncertain significance Single submitter
- ATG7 p.Thr383Pro Uncertain significance Single submitter
- ATG7 p.Thr64Pro Uncertain significance Single submitter
- ATG7 p.Thr76Ile Uncertain significance Single submitter
- ATG7 p.Tyr150Cys Uncertain significance Single submitter
- ATG7 p.Tyr184Cys Uncertain significance Single submitter
- ATG7 p.Tyr88Phe Uncertain significance Single submitter
- ATG7 p.Val250Ile Uncertain significance Single submitter
- ATG7 p.Val354Leu Uncertain significance Single submitter
-
ATG7 p.Val396Met
Uncertain significance
Single submitter
spinocerebellar ataxia, autosomal recessive 31
- ATG7 p.Val470Ile Uncertain significance Single submitter
- ATG7 p.Val486Ile Uncertain significance Single submitter
- ATG7 p.Val592Ile Uncertain significance Single submitter
Predictors split 18
The independent predictors disagree with each other — read with care.
-
ATG7 p.Val471Ala
Benign/Likely benign
Multiple submitters
spinocerebellar ataxia, autosomal recessive 31
- ATG7 p.Ala418Val Uncertain significance Single submitter
- ATG7 p.Ala430Val Uncertain significance Single submitter
- ATG7 p.Ala83Gly Uncertain significance Single submitter
- ATG7 p.Arg39Trp Uncertain significance Single submitter
- ATG7 p.Asp270Ala Uncertain significance Single submitter
- ATG7 p.Asp324Asn Uncertain significance Single submitter
- ATG7 p.Cys154Tyr Uncertain significance Single submitter
- ATG7 p.Glu660Lys Uncertain significance Single submitter
- ATG7 p.Gly119Ala Uncertain significance Single submitter
-
ATG7 p.Gly511Ala
Uncertain significance
Single submitter
spinocerebellar ataxia, autosomal recessive 31
-
ATG7 p.Leu512Pro
Uncertain significance
Single submitter
spinocerebellar ataxia, autosomal recessive 31
-
ATG7 p.Lys300Ile
Uncertain significance
Single submitter
spinocerebellar ataxia, autosomal recessive 31
- ATG7 p.Lys309Thr Uncertain significance Single submitter
-
ATG7 p.Lys493Arg
Uncertain significance
Single submitter
spinocerebellar ataxia, autosomal recessive 31
- ATG7 p.Phe172Leu Uncertain significance Single submitter
- ATG7 p.Phe67Leu Uncertain significance Single submitter
- ATG7 p.Ser19Arg Uncertain significance Single submitter
All ATG7 variants
Pathogenic 7
- c.528+3A>G Single submitter spinocerebellar ataxia, autosomal recessive 31
- p.Trp113Ter Single submitter spinocerebellar ataxia, autosomal recessive 31
- c.2080-2A>G No assertion criteria spinocerebellar ataxia, autosomal recessive 31
- p.Arg576His No assertion criteria spinocerebellar ataxia, autosomal recessive 31
- p.Gln261Arg No assertion criteria spinocerebellar ataxia, autosomal recessive 31 ⚠
- p.Gly511Asp No assertion criteria spinocerebellar ataxia, autosomal recessive 31
- p.His624Tyr No assertion criteria spinocerebellar ataxia, autosomal recessive 31
Pathogenic/Likely pathogenic 1
- p.Arg659Ter Multiple submitters spinocerebellar ataxia, autosomal recessive 31
Likely pathogenic 1
- c.1480-2A>T Single submitter spinocerebellar ataxia, autosomal recessive 31
Conflicting classifications of pathogenicity 2
- p.Asp522Glu Single submitter ⚠
- p.Pro426Leu Single submitter spinocerebellar ataxia, autosomal recessive 31 ⚠
Benign 3
- c.890-7C>T Multiple submitters
- c.890-8G>T Multiple submitters
- p.Ala253= Single submitter
Benign/Likely benign 3
- p.Asp609= Multiple submitters
- p.Lys326Gln Multiple submitters
- p.Val471Ala Multiple submitters spinocerebellar ataxia, autosomal recessive 31 ⚠
Likely benign 17
- p.Ala530Thr Multiple submitters
- p.Glu291= Multiple submitters
- p.Pro426= Multiple submitters
- c.412-6T>C Single submitter
- c.980+20T>G Single submitter
- p.Ala276Val Single submitter
- p.Arg659= Single submitter
- p.Gly378= Single submitter
- p.Gly408Ala Single submitter
- p.Ile229Val Single submitter
- p.Leu13= Single submitter
- p.Leu494= Single submitter
- p.Ser173= Single submitter
- p.Thr225Met Single submitter
- p.Thr5= Single submitter
- p.Thr5Met Single submitter
- c.333+8G>C No assertion criteria ATG7-related disorder
Uncertain significance 90
- p.Ala121Val Single submitter ⚠
- p.Ala238Thr Single submitter ⚠
- p.Ala418Val Single submitter ⚠
- p.Ala430Val Single submitter ⚠
- p.Ala485Val Single submitter ⚠
- p.Ala488Thr Single submitter
- p.Ala61Gly Single submitter ⚠
- p.Ala666Val Single submitter ⚠
- p.Ala78Val Single submitter ⚠
- p.Ala83Gly Single submitter ⚠
- p.Arg269His Single submitter ⚠
- p.Arg39Trp Single submitter ⚠
- p.Arg420Gln Single submitter ⚠
- p.Arg455Cys Single submitter ⚠
- p.Arg455His Single submitter ⚠
- p.Arg566Trp Single submitter ⚠
- p.Arg611Gln Single submitter ⚠
- p.Arg611Trp Single submitter ⚠
- p.Arg627Gln Single submitter ⚠
- p.Arg62Cys Single submitter
- p.Arg632Trp Single submitter ⚠
- p.Arg659Gln Single submitter ⚠
- p.Asn434Ser Single submitter ⚠
- p.Asn542Ser Single submitter ⚠
- p.Asn554Ser Single submitter ⚠
- p.Asp270Ala Single submitter ⚠
- p.Asp324Asn Single submitter ⚠
- p.Asp351Glu Single submitter ⚠
- p.Cys154Tyr Single submitter ⚠
- p.Glu181Gly Single submitter ⚠
- p.Glu191Lys Single submitter ⚠
- p.Glu286Lys Single submitter ⚠
- p.Glu660Lys Single submitter ⚠
- p.Glu701Asp Single submitter ⚠
- p.Glu94Lys Single submitter spinocerebellar ataxia, autosomal recessive 31 ⚠
- p.Gly119Ala Single submitter ⚠
- p.Gly164Glu Single submitter ⚠
- p.Gly364Ser Single submitter ⚠
- p.Gly376Asp Single submitter ⚠
- p.Gly408Val Single submitter ⚠
- p.Gly409Asp Single submitter ⚠
- p.Gly432Val Single submitter ⚠
- p.Gly511Ala Single submitter spinocerebellar ataxia, autosomal recessive 31 ⚠
- p.Gly600Arg Single submitter ⚠
- p.His215Gln Single submitter ⚠
- p.His28Leu Single submitter ⚠
- p.Ile437Val Single submitter ⚠
- p.Ile626Val Single submitter ⚠
- p.Leu348Phe Single submitter ⚠
- p.Leu348Ser Single submitter ⚠
- p.Leu35Val Single submitter
- p.Leu421Phe Single submitter primary ovarian failure ⚠
- p.Leu512Pro Single submitter spinocerebellar ataxia, autosomal recessive 31 ⚠
- p.Leu512Val Single submitter ⚠
- p.Lys300Ile Single submitter spinocerebellar ataxia, autosomal recessive 31 ⚠
- p.Lys309Thr Single submitter ⚠
- p.Lys34Asn Single submitter ⚠
- p.Lys493Arg Single submitter spinocerebellar ataxia, autosomal recessive 31 ⚠
- p.Met273Thr Single submitter ⚠
- p.Met697Ile Single submitter ⚠
- p.Phe172Leu Single submitter ⚠
- p.Phe219Ile Single submitter ⚠
- p.Phe403Ser Single submitter ⚠
- p.Phe643Leu Single submitter ⚠
- p.Phe67Leu Single submitter ⚠
- p.Pro296Ala Single submitter ⚠
- p.Pro299Ala Single submitter
- p.Pro577Ser Single submitter ⚠
- p.Pro75His Single submitter ⚠
- p.Pro75Ser Single submitter ⚠
- p.Ser11Thr Single submitter ⚠
- p.Ser19Arg Single submitter ⚠
- p.Ser262Cys Single submitter ⚠
- p.Ser391Phe Single submitter ⚠
- p.Ser448Asn Single submitter ⚠
- p.Ser467Thr Single submitter ⚠
- p.Ser608Gly Single submitter ⚠
- p.Thr383Pro Single submitter ⚠
- p.Thr64Pro Single submitter ⚠
- p.Thr76Ile Single submitter ⚠
- p.Tyr150Cys Single submitter ⚠
- p.Tyr184Cys Single submitter ⚠
- p.Tyr88Phe Single submitter ⚠
- p.Val250Ile Single submitter ⚠
- p.Val354Leu Single submitter ⚠
- p.Val379Met Single submitter
- p.Val396Met Single submitter spinocerebellar ataxia, autosomal recessive 31 ⚠
- p.Val470Ile Single submitter ⚠
- p.Val486Ile Single submitter ⚠
- p.Val592Ile Single submitter ⚠