ClinVar Miner

Submissions for variant NM_002863.5(PYGL):c.25_44dup (p.Ser15fs)

dbSNP: rs786204785
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000169673 SCV000221208 pathogenic Glycogen storage disease, type VI 2013-11-10 criteria provided, single submitter clinical testing The Ser15ArgfsX21 variant in PYGL has not been previously reported in individuals with glycogen storage disease 6 or in large population studies. However, this novel frameshift variant is predicted to alter the protein’s amino acid sequence beginning at position 15 and lead to a premature termination codon 21 amino acids downstream. This alteration is then predicted to lead to a truncated or absent protein. This variant meets our criteria to be classified as pathogenic (http://pcpgm.partners.org/LMM) based upon the established role of loss-of-function variants in glycogen storage disease 6.
GeneDx RCV002460948 SCV002757013 pathogenic not provided 2022-11-08 criteria provided, single submitter clinical testing Frameshift 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 a significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge

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