ClinVar Miner

Submissions for variant NM_005609.4(PYGM):c.403G>A (p.Gly135Arg)

dbSNP: rs780246932
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV000761339 SCV000891325 likely pathogenic Glycogen storage disease, type V 2017-08-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000761339 SCV003439884 pathogenic Glycogen storage disease, type V 2024-08-31 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 135 of the PYGM protein (p.Gly135Arg). This variant is present in population databases (rs780246932, gnomAD 0.006%). This missense change has been observed in individual(s) with glycogen storage disease (PMID: 19472443, 29143597; internal data). ClinVar contains an entry for this variant (Variation ID: 623217). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt PYGM protein function with a positive predictive value of 95%. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000761339 SCV004207219 likely pathogenic Glycogen storage disease, type V 2023-10-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000761339 SCV005684410 likely pathogenic Glycogen storage disease, type V 2024-04-24 criteria provided, single submitter clinical testing

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