ClinVar Miner

Submissions for variant NM_152743.4(BRAT1):c.1203_1204del (p.Cys401_Asp402delinsTer) (rs773772842)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000490042 SCV000577514 pathogenic not provided 2019-01-15 criteria provided, single submitter clinical testing The c.1203_1204delTG variant in the BRAT1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.1203_1204delTG variant changes codon Cysteine 401 to a premature Stop codon, denoted p.Cys401Ter. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.1203_1204delTG variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.1203_1204delTG as a pathogenic variant.

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