ClinVar Miner

Submissions for variant NM_001330078.2(NRXN1):c.3757C>T (p.Arg1253Ter) (rs1201575289)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523187 SCV000619885 likely pathogenic not provided 2018-04-05 criteria provided, single submitter clinical testing A variant that is likely pathogenic has been identified in the NRXN1 gene. The R1293X variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The R1293X nonsense variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Furthermore, the R1293X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.

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