ClinVar Miner

Submissions for variant NM_004130.4(GYG1):c.683C>T (p.Thr228Ile)

gnomAD frequency: 0.00006  dbSNP: rs201672568
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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 RCV001929497 SCV002201958 uncertain significance Glycogen storage disease XV; Polyglucosan body myopathy type 2 2022-07-02 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 228 of the GYG1 protein (p.Thr228Ile). This variant is present in population databases (rs201672568, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with GYG1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1426589). 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: "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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