ClinVar Miner

Submissions for variant NM_001330078.2(NRXN1):c.2196C>T (p.Pro732=)

gnomAD frequency: 0.00004  dbSNP: rs549242356
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001703477 SCV000513967 likely benign not provided 2020-01-08 criteria provided, single submitter clinical testing
Invitae RCV001466176 SCV001670176 likely benign Pitt-Hopkins-like syndrome 2 2023-12-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002429362 SCV002731851 likely benign Inborn genetic diseases 2018-12-13 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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 RCV003970118 SCV004779277 likely benign NRXN1-related condition 2021-12-29 criteria provided, single submitter 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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