ClinVar Miner

Submissions for variant NM_004130.4(GYG1):c.865G>A (p.Gly289Ser)

dbSNP: rs1167301212
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001874911 SCV002142397 uncertain significance Glycogen storage disease XV; Polyglucosan body myopathy type 2 2021-08-15 criteria provided, single submitter clinical testing This sequence change replaces glycine with serine at codon 289 of the GYG1 protein (p.Gly289Ser). The glycine residue is weakly conserved and there is a small physicochemical difference between glycine and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with GYG1-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 tolerated. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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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