ClinVar Miner

Submissions for variant NM_004130.4(GYG1):c.1039A>G (p.Thr347Ala)

dbSNP: rs759064665
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001226674 SCV001398995 uncertain significance Glycogen storage disease XV; Polyglucosan body myopathy type 2 2019-10-02 criteria provided, single submitter clinical testing This variant is present in population databases (rs759064665, ExAC 0.006%). This sequence change replaces threonine with alanine at codon 347 of the GYG1 protein (p.Thr347Ala). The threonine residue is moderately conserved and there is a small physicochemical difference between threonine and alanine. 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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