ClinVar Miner

Submissions for variant NM_152743.4(BRAT1):c.313G>T (p.Glu105Ter)

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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 RCV003645434 SCV004384151 pathogenic Neonatal-onset encephalopathy with rigidity and seizures 2023-10-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu105*) in the BRAT1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRAT1 are known to be pathogenic (PMID: 22279524, 25500575). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BRAT1-related conditions. For these reasons, this variant has been classified as Pathogenic.

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