ClinVar Miner

Submissions for variant NM_004130.4(GYG1):c.403G>A (p.Gly135Arg)

gnomAD frequency: 0.00001  dbSNP: rs566956486
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001895490 SCV002149279 uncertain significance Glycogen storage disease XV; Polyglucosan body myopathy type 2 2022-07-29 criteria provided, single submitter clinical testing This missense change has been observed in individual(s) with clinical features of glycogen storage disease XV (PMID: 29143313). Experimental studies have shown that this missense change affects GYG1 function (PMID: 29143313). 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. ClinVar contains an entry for this variant (Variation ID: 1381640). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant is present in population databases (rs566956486, gnomAD 0.006%). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 135 of the GYG1 protein (p.Gly135Arg). 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.
Mayo Clinic Laboratories, Mayo Clinic RCV003481160 SCV004226927 uncertain significance not provided 2023-03-23 criteria provided, single submitter clinical testing PP3, PM2

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