ClinVar Miner

Submissions for variant NM_002103.5(GYS1):c.945T>A (p.His315Gln)

gnomAD frequency: 0.00002  dbSNP: rs2038779389
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002014820 SCV002230477 uncertain significance Glycogen storage disease due to muscle and heart glycogen synthase deficiency 2022-07-05 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with GYS1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces histidine, which is basic and polar, with glutamine, which is neutral and polar, at codon 315 of the GYS1 protein (p.His315Gln). ClinVar contains an entry for this variant (Variation ID: 1450664). 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. 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.
PreventionGenetics, part of Exact Sciences RCV004752115 SCV005341585 uncertain significance GYS1-related disorder 2024-03-22 no assertion criteria provided clinical testing The GYS1 c.945T>A variant is predicted to result in the amino acid substitution p.His315Gln. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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