ClinVar Miner

Submissions for variant NM_001330078.2(NRXN1):c.2085G>A (p.Trp695Ter)

dbSNP: rs1553759318
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000497428 SCV000590095 pathogenic not provided 2017-05-30 criteria provided, single submitter clinical testing The W735X variant in the NRXN1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The W735X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret W735X as a pathogenic variant.

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