ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.515T>C (p.Ile172Thr)

gnomAD frequency: 0.00017  dbSNP: rs201326295
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000766789 SCV000240840 uncertain significance not provided 2024-12-23 criteria provided, single submitter clinical testing Observed in an individual with complex partial seizures in published literature (PMID: 31875159); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 28719003, 26740555, 24807215, 36975488, 31875159)
Labcorp Genetics (formerly Invitae), Labcorp RCV001082847 SCV000645121 likely benign Cortical dysplasia-focal epilepsy syndrome 2025-01-10 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000187258 SCV000709001 likely benign not specified 2017-06-07 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001082847 SCV001320552 likely benign Cortical dysplasia-focal epilepsy syndrome 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 and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Revvity Omics, Revvity RCV001082847 SCV003831101 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2021-02-01 criteria provided, single submitter clinical testing

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