ClinVar Miner

Submissions for variant NM_152743.4(BRAT1):c.2341C>G (p.Leu781Val)

dbSNP: rs2128382998
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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 RCV001880971 SCV002146026 uncertain significance Neonatal-onset encephalopathy with rigidity and seizures 2021-08-24 criteria provided, single submitter clinical testing This sequence change replaces leucine with valine at codon 781 of the BRAT1 protein (p.Leu781Val). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and valine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with BRAT1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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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