ClinVar Miner

Submissions for variant NM_004130.4(GYG1):c.662A>C (p.Asn221Thr)

dbSNP: rs1412348949
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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 RCV000796254 SCV000935759 uncertain significance Glycogen storage disease XV; Polyglucosan body myopathy type 2 2018-12-21 criteria provided, single submitter clinical testing This sequence change replaces asparagine with threonine at codon 221 of the GYG1 protein (p.Asn221Thr). The asparagine residue is highly 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 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: "Deleterious"; PolyPhen-2: "Possibly 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.

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