ClinVar Miner

Submissions for variant NM_152743.4(BRAT1):c.1291G>A (p.Asp431Asn)

gnomAD frequency: 0.00016  dbSNP: rs138016332
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001359514 SCV001555388 uncertain significance Neonatal-onset encephalopathy with rigidity and seizures 2022-09-06 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 431 of the BRAT1 protein (p.Asp431Asn). This variant is present in population databases (rs138016332, gnomAD 0.06%). 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: 1051470). 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: "Probably Damaging"; Align-GVGD: "Class C0"). 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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