ClinVar Miner

Submissions for variant NM_002103.5(GYS1):c.152C>T (p.Ala51Val)

gnomAD frequency: 0.00003  dbSNP: rs780821674
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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 RCV002046696 SCV002108384 uncertain significance Glycogen storage disease due to muscle and heart glycogen synthase deficiency 2022-08-17 criteria provided, single submitter clinical testing 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"). ClinVar contains an entry for this variant (Variation ID: 1348956). This variant has not been reported in the literature in individuals affected with GYS1-related conditions. This variant is present in population databases (rs780821674, gnomAD 0.003%). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 51 of the GYS1 protein (p.Ala51Val). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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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