ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.1119G>A (p.Thr373=)

gnomAD frequency: 0.00970  dbSNP: rs73471053
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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 RCV000116776 SCV000150752 benign not specified 2017-04-03 criteria provided, single submitter clinical testing
GeneDx RCV000116776 SCV000167788 benign not specified 2013-04-04 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.
PreventionGenetics, part of Exact Sciences RCV000116776 SCV000312060 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000457650 SCV000563240 benign Cortical dysplasia-focal epilepsy syndrome 2025-02-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002313872 SCV000847891 benign Inborn genetic diseases 2016-05-09 criteria provided, single submitter clinical testing This alteration is classified as 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.

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