ClinVar Miner

Submissions for variant NM_000303.3(PMM2):c.584A>G (p.His195Arg)

dbSNP: rs1596489887
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002260674 SCV002540435 likely pathogenic not provided 2022-06-28 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 11058895, 32581362, 16009061, 10527672, 11156536)
NIHR Bioresource Rare Diseases, University of Cambridge RCV001003992 SCV001162018 likely pathogenic Congenital cerebellar hypoplasia; Cerebellar ataxia; Muscular dystrophy; Diabetes mellitus no assertion criteria provided research
NIHR Bioresource Rare Diseases, University of Cambridge RCV001003993 SCV001162019 likely pathogenic Cerebellar ataxia no assertion criteria provided research

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