ClinVar Miner

Submissions for variant NM_005609.4(PYGM):c.208C>T (p.Arg70Cys)

gnomAD frequency: 0.00018  dbSNP: rs765844107
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489454 SCV000577135 uncertain significance not provided 2022-07-01 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 29143597)
Invitae RCV001272370 SCV003439885 uncertain significance Glycogen storage disease, type V 2022-10-13 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 70 of the PYGM protein (p.Arg70Cys). This variant is present in population databases (rs765844107, gnomAD 0.05%). This missense change has been observed in individual(s) with McArdle disease (PMID: 29143597). ClinVar contains an entry for this variant (Variation ID: 426638). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt PYGM protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Revvity Omics, Revvity RCV001272370 SCV003810345 uncertain significance Glycogen storage disease, type V 2022-12-27 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272370 SCV001454305 uncertain significance Glycogen storage disease, type V 2020-09-16 no assertion criteria provided clinical testing

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