ClinVar Miner

Submissions for variant NM_152743.4(BRAT1):c.1371_1395+16del (rs1224820591)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000810233 SCV000950426 likely pathogenic Rigidity and multifocal seizure syndrome, lethal neonatal 2018-12-14 criteria provided, single submitter clinical testing This variant is a deletion of the genomic region encompassing part of exon 10 (c.1371_1395+16del) of the BRAT1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with BRAT1-related conditions. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. Loss-of-function variants in BRAT1 are known to be pathogenic (PMID: 22279524, 25500575). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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