ClinVar Miner

Submissions for variant NM_004130.4(GYG1):c.68G>A (p.Gly23Glu)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001245239 SCV001418512 uncertain significance Glycogen storage disease XV; Polyglucosan body myopathy 2 2019-01-31 criteria provided, single submitter clinical testing This sequence change replaces glycine with glutamic acid at codon 23 of the GYG1 protein (p.Gly23Glu). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and glutamic acid. This variant is present in population databases (rs112622137, ExAC 0.09%). 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.
Mayo Clinic Laboratories, Mayo Clinic RCV001508506 SCV001714713 uncertain significance not provided 2019-11-24 criteria provided, single submitter clinical testing
GeneDx RCV001508506 SCV001771608 uncertain significance not provided 2020-04-09 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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