ClinVar Miner

Submissions for variant NM_001330078.2(NRXN1):c.2832T>G (p.Tyr944Ter) (rs1057521798)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000427988 SCV000524585 likely pathogenic not provided 2016-04-07 criteria provided, single submitter clinical testing The Y984X 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 Y984X variant was not observed in approximately 6000 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The Y984X variant is a strong candidate for a pathogenic variant, however the possibility it may be a rare benign variant cannot be excluded.

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