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 2018-12-03 criteria provided, single submitter clinical testing The R399X variant in the PYGL gene has been reported previously, along with a missense variant, in an individual with glycogen storage disease type VI (Beauchamp et al., 2007). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R399X variant is observed in 1/30,778 (0.0032%) alleles from individuals of South Asian background in large population cohorts (Lek et al., 2016). We interpret R399X as a pathogenic variant.
GeneReviews RCV000020492 SCV000040940 not provided Glycogen storage disease, type VI no assertion provided literature only

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