ClinVar Miner

Submissions for variant NM_005609.4(PYGM):c.1834C>G (p.Pro612Ala)

dbSNP: rs1419658107
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523949 SCV000620412 uncertain significance not provided 2017-08-30 criteria provided, single submitter clinical testing The P612A variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The P612A variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. However, missense variants in nearby residues have not been reported in the Human Gene Mutation Database in association with McArdle disease (Stenson et al., 2014).
Revvity Omics, Revvity RCV003129885 SCV003818086 uncertain significance Glycogen storage disease, type V 2019-06-26 criteria provided, single submitter clinical testing

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