ClinVar Miner

Submissions for variant NM_001330078.2(NRXN1):c.4248G>A (p.Pro1416=)

gnomAD frequency: 0.00006  dbSNP: rs151195816
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193445 SCV000248287 uncertain significance not specified 2015-07-23 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000866214 SCV000431185 uncertain significance Pitt-Hopkins-like syndrome 2 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Ambry Genetics RCV000719951 SCV000850824 likely benign History of neurodevelopmental disorder 2017-02-03 criteria provided, single submitter clinical testing In silico models in agreement (benign) ;Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV000866214 SCV001007278 likely benign Pitt-Hopkins-like syndrome 2 2023-11-27 criteria provided, single submitter clinical testing
GeneDx RCV001589068 SCV001815043 likely benign not provided 2020-06-28 criteria provided, single submitter clinical testing

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