ClinVar Miner

Submissions for variant NM_005609.4(PYGM):c.1913G>T (p.Gly638Val)

gnomAD frequency: 0.00006  dbSNP: rs776881451
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001531737 SCV001746999 uncertain significance not provided 2021-02-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002568197 SCV003269036 uncertain significance Glycogen storage disease, type V 2022-06-28 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 638 of the PYGM protein (p.Gly638Val). This variant is present in population databases (rs776881451, gnomAD 0.008%). 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: 1176287). 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.

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