ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.386C>T (p.Ser129Phe)

dbSNP: rs2151803284
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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 RCV002047930 SCV002297458 uncertain significance Lethal congenital glycogen storage disease of heart 2021-03-24 criteria provided, single submitter clinical testing 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with PRKAG2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with phenylalanine at codon 129 of the PRKAG2 protein (p.Ser129Phe). The serine residue is moderately conserved and there is a large physicochemical difference between serine and phenylalanine.

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