ClinVar Miner

Submissions for variant NM_004130.4(GYG1):c.716A>C (p.Asn239Thr)

gnomAD frequency: 0.00003  dbSNP: rs759134229
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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 RCV002022013 SCV002263064 uncertain significance Glycogen storage disease XV; Polyglucosan body myopathy type 2 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces asparagine with threonine at codon 239 of the GYG1 protein (p.Asn239Thr). The asparagine residue is weakly conserved and there is a small physicochemical difference between asparagine and threonine. 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The threonine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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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