ClinVar Miner

Submissions for variant NM_004130.4(GYG1):c.646C>T (p.Arg216Ter)

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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 RCV002512239 SCV002821223 pathogenic not provided 2022-10-01 criteria provided, single submitter clinical testing GYG1: PVS1, PM2
Labcorp Genetics (formerly Invitae), Labcorp RCV002569453 SCV003525291 pathogenic Glycogen storage disease XV; Polyglucosan body myopathy type 2 2022-10-16 criteria provided, single submitter clinical testing This variant is present in population databases (rs777291159, gnomAD 0.004%). For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with clinical features of glycogen storage disease (PMID: 29264399). This sequence change creates a premature translational stop signal (p.Arg216*) in the GYG1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GYG1 are known to be pathogenic (PMID: 20357282, 25272951).

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