ClinVar Miner

Submissions for variant NM_002863.5(PYGL):c.1195C>T (p.Arg399Ter)

gnomAD frequency: 0.00001  dbSNP: rs113993978
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760439 SCV000890322 pathogenic not provided 2023-12-13 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 20301760, 25525159, 17705025)
GeneReviews RCV000020492 SCV000040940 not provided Glycogen storage disease, type VI no assertion provided literature only

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