GGPS1 — 38 ClinVar variants
All ClinVar germline GGPS1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 31 flagged for review →
3 Pathogenic · 1 Likely pathogenic · 1 Conflicting · 33 Uncertain significance
Full GGPS1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 31
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.
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GGPS1 p.Val285Gly
Pathogenic
No assertion criteria
muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome
Predictors lean, ClinVar uncertain 23
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
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GGPS1 p.Asp134Asn
Uncertain significance
Multiple submitters
muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome
-
GGPS1 p.His57Arg
Uncertain significance
Multiple submitters
muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome
-
GGPS1 p.Ala286Ser
Uncertain significance
Single submitter
muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome
- GGPS1 p.Ala79Asp Uncertain significance Single submitter
- GGPS1 p.Asn90Asp Uncertain significance Single submitter
- GGPS1 p.Asp253Val Uncertain significance Single submitter
- GGPS1 p.Gln126Arg Uncertain significance Single submitter
- GGPS1 p.Gln21Arg Uncertain significance Single submitter
- GGPS1 p.Glu283Gln Uncertain significance Single submitter
- GGPS1 p.Ile243Val Uncertain significance Single submitter
- GGPS1 p.Leu12Pro Uncertain significance Single submitter
- GGPS1 p.Leu162His Uncertain significance Single submitter
- GGPS1 p.Leu162Phe Uncertain significance Single submitter
- GGPS1 p.Leu173Ile Uncertain significance Single submitter
-
GGPS1 p.Leu182Pro
Uncertain significance
Single submitter
neuromuscular disease
- GGPS1 p.Lys17Glu Uncertain significance Single submitter
- GGPS1 p.Lys289Arg Uncertain significance Single submitter
- GGPS1 p.Pro15Leu Uncertain significance Single submitter
-
GGPS1 p.Pro15Ser
Uncertain significance
Single submitter
muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome
- GGPS1 p.Ser199Asn Uncertain significance Single submitter
- GGPS1 p.Ser227Asn Uncertain significance Single submitter
- GGPS1 p.Thr217Ala Uncertain significance Single submitter
- GGPS1 p.Thr263Asn Uncertain significance Single submitter
Predictors split 7
The independent predictors disagree with each other — read with care.
- GGPS1 p.Pro225Ser Uncertain significance Multiple submitters
-
GGPS1 p.Arg261His
Conflicting
Single submitter
muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome
- GGPS1 p.Gln118His Uncertain significance Single submitter
- GGPS1 p.Glu171Lys Uncertain significance Single submitter
-
GGPS1 p.Ile66Leu
Uncertain significance
Single submitter
neuromuscular disease
- GGPS1 p.Pro216Leu Uncertain significance Single submitter
- GGPS1 p.Val95Met Uncertain significance Single submitter
All GGPS1 variants
Pathogenic 3
- p.Arg261Gly No assertion criteria muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome
- p.Tyr259Cys No assertion criteria muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome
- p.Val285Gly No assertion criteria muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome ⚠
Likely pathogenic 1
- p.Phe257Cys Single submitter tubular aggregate myopathy
Conflicting classifications of pathogenicity 1
- p.Arg261His Single submitter muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome ⚠
Uncertain significance 33
- p.Asp134Asn Multiple submitters muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome ⚠
- p.His57Arg Multiple submitters muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome ⚠
- p.Pro225Ser Multiple submitters ⚠
- p.Ala286Ser Single submitter muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome ⚠
- p.Ala79Asp Single submitter ⚠
- p.Asn90Asp Single submitter ⚠
- p.Asp253Val Single submitter ⚠
- p.Gln118His Single submitter ⚠
- p.Gln126Arg Single submitter ⚠
- p.Gln21Arg Single submitter ⚠
- p.Glu171Lys Single submitter ⚠
- p.Glu283Gln Single submitter ⚠
- p.Gly255Asp Single submitter muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome
- p.Ile243Val Single submitter ⚠
- p.Ile66Leu Single submitter neuromuscular disease ⚠
- p.Leu12Pro Single submitter ⚠
- p.Leu162His Single submitter ⚠
- p.Leu162Phe Single submitter ⚠
- p.Leu173Ile Single submitter ⚠
- p.Leu182Pro Single submitter neuromuscular disease ⚠
- p.Leu264Val Single submitter
- p.Lys17Glu Single submitter ⚠
- p.Lys289Arg Single submitter ⚠
- p.Pro15Leu Single submitter ⚠
- p.Pro15Ser Single submitter muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome ⚠
- p.Pro216Leu Single submitter ⚠
- p.Ser199Asn Single submitter ⚠
- p.Ser227Asn Single submitter ⚠
- p.Thr217Ala Single submitter ⚠
- p.Thr263Asn Single submitter ⚠
- p.Val103fs Single submitter
- p.Val95Met Single submitter ⚠
- p.Asn90Ser No assertion criteria myopathy