ClinVar Miner

Submissions for variant NM_152743.4(BRAT1):c.1522C>T (p.Arg508Cys)

gnomAD frequency: 0.00002  dbSNP: rs751548415
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000998751 SCV001155001 uncertain significance not provided 2018-10-01 criteria provided, single submitter clinical testing
Invitae RCV002549103 SCV003456016 uncertain significance Neonatal-onset encephalopathy with rigidity and seizures 2022-07-18 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 508 of the BRAT1 protein (p.Arg508Cys). This variant is present in population databases (rs751548415, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with BRAT1-related conditions. ClinVar contains an entry for this variant (Variation ID: 810054). 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.
Ambry Genetics RCV002549104 SCV003707748 uncertain significance Inborn genetic diseases 2021-03-01 criteria provided, single submitter clinical testing The c.1522C>T (p.R508C) alteration is located in exon 12 (coding exon 11) of the BRAT1 gene. This alteration results from a C to T substitution at nucleotide position 1522, causing the arginine (R) at amino acid position 508 to be replaced by a cysteine (C). The in silico prediction for the p.R508C alteration is inconclusive. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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