ClinVar Miner

Submissions for variant NM_002863.5(PYGL):c.1454A>G (p.Asn485Ser)

gnomAD frequency: 0.00001  dbSNP: rs138888959
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001043719 SCV001207479 uncertain significance Glycogen storage disease, type VI 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces asparagine with serine at codon 485 of the PYGL protein (p.Asn485Ser). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and serine. This variant is present in population databases (rs138888959, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with PYGL-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV001043719 SCV002777827 uncertain significance Glycogen storage disease, type VI 2022-03-16 criteria provided, single submitter clinical testing
GeneDx RCV004726821 SCV005333223 uncertain significance not provided 2023-08-27 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 32374048)

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