ClinVar Miner

Submissions for variant NM_152743.4(BRAT1):c.1129C>T (p.Pro377Ser)

gnomAD frequency: 0.00001  dbSNP: rs780327501
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001727391 SCV001962025 uncertain significance not provided 2021-07-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002538686 SCV003000271 uncertain significance Neonatal-onset encephalopathy with rigidity and seizures 2022-04-28 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 377 of the BRAT1 protein (p.Pro377Ser). This variant is present in population databases (rs780327501, gnomAD 0.001%). 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: 1299061). 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 tolerated. 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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