ClinVar Miner

Submissions for variant NM_001330078.2(NRXN1):c.3218del (p.Asn1073fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003479895 SCV004223846 pathogenic Pitt-Hopkins-like syndrome 2 2023-11-02 criteria provided, single submitter clinical testing Variant summary: NRXN1 c.3338delA (p.Asn1113ThrfsX39) results in a premature termination codon, predicted to cause absence of the protein due to nonsense mediated decay, which is a commonly known mechanism for disease. The variant was absent in 246452 control chromosomes (gnomAD). To our knowledge, no occurrence of c.3338delA in individuals affected with Pitt-Hopkins-Like Syndrome 2 and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic.

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