ClinVar Miner

Submissions for variant NM_021957.4(GYS2):c.470C>T (p.Ser157Phe)

gnomAD frequency: 0.00004  dbSNP: rs774019135
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001294991 SCV001483896 uncertain significance Glycogen storage disorder due to hepatic glycogen synthase deficiency 2022-11-29 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 157 of the GYS2 protein (p.Ser157Phe). 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 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"). ClinVar contains an entry for this variant (Variation ID: 999043). This variant has not been reported in the literature in individuals affected with GYS2-related conditions. This variant is present in population databases (rs774019135, gnomAD 0.02%).

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