ClinVar Miner

Submissions for variant NM_004130.4(GYG1):c.872G>T (p.Cys291Phe)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001342452 SCV001536385 uncertain significance Glycogen storage disease XV; Polyglucosan body myopathy 2 2020-08-23 criteria provided, single submitter clinical testing This sequence change replaces cysteine with phenylalanine at codon 291 of the GYG1 protein (p.Cys291Phe). The cysteine residue is weakly conserved and there is a large physicochemical difference between cysteine and phenylalanine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with GYG1-related conditions. 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: Tolerated; PolyPhen-2: Probably Damaging; Align-GVGD: Class C0). 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.

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