ClinVar Miner

Submissions for variant NM_001330078.2(NRXN1):c.2037G>A (p.Pro679=)

gnomAD frequency: 0.00008  dbSNP: rs199714221
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188231 SCV000241838 benign not specified 2014-12-16 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001078519 SCV000651813 likely benign Pitt-Hopkins-like syndrome 2 2023-12-31 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000726803 SCV000703158 uncertain significance not provided 2016-11-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002426908 SCV002727037 likely benign Inborn genetic diseases 2019-09-22 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.
PreventionGenetics, part of Exact Sciences RCV004737291 SCV005341591 likely benign NRXN1-related disorder 2024-09-29 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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