ClinVar Miner

Submissions for variant NM_005609.4(PYGM):c.8G>A (p.Arg3Gln)

gnomAD frequency: 0.00001  dbSNP: rs374812974
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000726186 SCV000342722 uncertain significance not provided 2016-07-15 criteria provided, single submitter clinical testing
GeneDx RCV000726186 SCV000620765 uncertain significance not provided 2019-12-16 criteria provided, single submitter clinical testing The majority of missense variants in this gene are considered pathogenic (Stenson et al., 2014); Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001274029 SCV003253926 uncertain significance Glycogen storage disease, type V 2022-07-03 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 3 of the PYGM protein (p.Arg3Gln). This variant is present in population databases (rs374812974, gnomAD 0.01%). 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: 288565). 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: "Benign"; 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 RCV001274029 SCV003810420 uncertain significance Glycogen storage disease, type V 2019-07-23 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000726186 SCV005191339 uncertain significance not provided criteria provided, single submitter not provided
Natera, Inc. RCV001274029 SCV001457734 uncertain significance Glycogen storage disease, type V 2020-03-10 no assertion criteria provided clinical testing

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