ClinVar Miner

Submissions for variant NM_152743.4(BRAT1):c.398_405del (p.His133fs)

dbSNP: rs760389988
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001045207 SCV001209045 pathogenic Neonatal-onset encephalopathy with rigidity and seizures 2019-01-01 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BRAT1 are known to be pathogenic (PMID: 22279524, 25500575). This variant has not been reported in the literature in individuals with BRAT1-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This sequence change creates a premature translational stop signal (p.His133Argfs*55) in the BRAT1 gene. It is expected to result in an absent or disrupted protein product.

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