ClinVar Miner

Submissions for variant NC_000007.14:g.(?_2554285)_(2554451_?)del

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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 RCV000802580 SCV000942417 pathogenic Neonatal-onset encephalopathy with rigidity and seizures 2018-09-24 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon 2 of the BRAT1 gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 2 of the BRAT1 gene. This is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with BRAT1-related disease. 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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