ClinVar Miner

Submissions for variant NM_005609.4(PYGM):c.481C>T (p.Arg161Cys)

gnomAD frequency: 0.00002  dbSNP: rs200038732
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666983 SCV000791365 uncertain significance Glycogen storage disease, type V 2017-05-09 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000666983 SCV002018989 uncertain significance Glycogen storage disease, type V 2023-12-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000666983 SCV003439883 uncertain significance Glycogen storage disease, type V 2022-07-03 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 161 of the PYGM protein (p.Arg161Cys). This variant is present in population databases (rs200038732, gnomAD 0.002%). This missense change has been observed in individual(s) with glycogen storage disease type V (PMID: 17404776). ClinVar contains an entry for this variant (Variation ID: 551832). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available"). 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.
Baylor Genetics RCV000666983 SCV004207247 likely pathogenic Glycogen storage disease, type V 2023-08-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000666983 SCV005684404 likely pathogenic Glycogen storage disease, type V 2024-03-06 criteria provided, single submitter clinical testing

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