ClinVar Miner

Submissions for variant NM_145064.3(STAC3):c.770G>T (p.Arg257Leu)

dbSNP: rs2037686346
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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 RCV001956588 SCV002246187 uncertain significance Bailey-Bloch congenital myopathy 2021-07-07 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: "Benign"; Align-GVGD: "Class C0"). This sequence change replaces arginine with leucine at codon 257 of the STAC3 protein (p.Arg257Leu). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and leucine. This variant has not been reported in the literature in individuals affected with STAC3-related conditions. This variant is not present in population databases (ExAC no frequency).

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