ClinVar Miner

Submissions for variant NM_152743.4(BRAT1):c.453_454insATCTTCTC (p.Leu152fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001386843 SCV001587215 pathogenic Rigidity and multifocal seizure syndrome, lethal neonatal 2020-10-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu152Ilefs*70) in the BRAT1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs727505362, ExAC 0.04%). This variant has been observed in individual(s) with clinical features of neonatal-lethal rigidity and multifocal seizure syndrome (PMID: 23035047). 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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