ClinVar Miner

Submissions for variant NM_152743.4(BRAT1):c.2434T>G (p.Phe812Val)

dbSNP: rs757188244
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001363155 SCV001559255 uncertain significance Neonatal-onset encephalopathy with rigidity and seizures 2022-09-06 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1054618). 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant has not been reported in the literature in individuals affected with BRAT1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces phenylalanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 812 of the BRAT1 protein (p.Phe812Val).

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