ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.215G>T (p.Arg72Leu)

dbSNP: rs770751961
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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 RCV001317494 SCV001508158 uncertain significance Brugada syndrome 5 2020-09-01 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with SCN1B-related conditions. 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: "Benign"; Align-GVGD: "Class C15"). This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with leucine at codon 72 of the SCN1B protein (p.Arg72Leu). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and leucine.

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