ClinVar Miner

Submissions for variant NM_152743.4(BRAT1):c.1492del (p.Leu498fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001052109 SCV001216303 pathogenic Rigidity and multifocal seizure syndrome, lethal neonatal 2019-02-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu498Serfs*19) in the BRAT1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BRAT1-related conditions. Loss-of-function variants in BRAT1 are known to be pathogenic (PMID: 22279524, 25500575). For these reasons, this variant has been classified as Pathogenic.

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