ClinVar Miner

Submissions for variant NM_001330078.2(NRXN1):c.4176T>C (p.Asp1392=)

gnomAD frequency: 0.00016  dbSNP: rs201135028
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001718857 SCV000513979 likely benign not provided 2019-10-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000472283 SCV000562378 likely benign Pitt-Hopkins-like syndrome 2 2024-01-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002374630 SCV002692003 likely benign Inborn genetic diseases 2019-10-23 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics RCV002502478 SCV002808957 likely benign Pitt-Hopkins-like syndrome 2; Chromosome 2p16.3 deletion syndrome 2022-05-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004539775 SCV004765164 likely benign NRXN1-related disorder 2023-06-22 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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