ClinVar Miner

Submissions for variant NM_152743.4(BRAT1):c.1771-1G>A (rs1064796877)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000478535 SCV000574037 pathogenic not provided 2017-03-16 criteria provided, single submitter clinical testing The c.1771-1G>A variant in the BRAT1 gene has not been reported previously as a pathogenicvariant nor as a benign variant, to our knowledge. This splice site variant destroys the canonical spliceacceptor site in intron 13. It is predicted to cause abnormal gene splicing, either leading to anabnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal proteinproduct if the message is used for protein translation. The c.1771-1G>A variant is not observed inlarge population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.1771-1G>A as a pathogenic variant.

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