ClinVar Miner

Submissions for variant NM_005609.4(PYGM):c.1918C>T (p.Arg640Cys)

gnomAD frequency: 0.00002  dbSNP: rs771016457
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000384511 SCV000334121 uncertain significance not provided 2015-08-27 criteria provided, single submitter clinical testing
GeneDx RCV000384511 SCV002097470 uncertain significance not provided 2022-02-08 criteria provided, single submitter clinical testing Missense variants in this gene are often considered pathogenic (HGMD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV001280469 SCV003480791 uncertain significance Glycogen storage disease, type V 2022-08-10 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 640 of the PYGM protein (p.Arg640Cys). This variant is present in population databases (rs771016457, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with PYGM-related conditions. ClinVar contains an entry for this variant (Variation ID: 282583). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available"). 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 RCV001280469 SCV003810361 uncertain significance Glycogen storage disease, type V 2021-03-25 criteria provided, single submitter clinical testing
Natera, Inc. RCV001280469 SCV001467649 uncertain significance Glycogen storage disease, type V 2020-04-14 no assertion criteria provided clinical testing

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