ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.341G>A (p.Arg114Gln)

gnomAD frequency: 0.00005  dbSNP: rs189731792
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724691 SCV000229121 uncertain significance not provided 2015-04-02 criteria provided, single submitter clinical testing
GeneDx RCV000724691 SCV000240831 uncertain significance not provided 2024-06-24 criteria provided, single submitter clinical testing Identified in a control individual for an ASD cohort and was not predicted to be deleterious; however, additional information regarding the zygosity of the variant or the phenotype of the individual was not provided (PMID: 18179895); In silico analysis indicates that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 18179895)
Fulgent Genetics, Fulgent Genetics RCV000515189 SCV000611464 uncertain significance Autism, susceptibility to, 15; Cortical dysplasia-focal epilepsy syndrome 2017-05-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001084928 SCV000645106 likely benign Cortical dysplasia-focal epilepsy syndrome 2025-01-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002317028 SCV000851266 uncertain significance Inborn genetic diseases 2019-03-19 criteria provided, single submitter clinical testing The p.R114Q variant (also known as c.341G>A), located in coding exon 3 of the CNTNAP2 gene, results from a G to A substitution at nucleotide position 341. The arginine at codon 114 is replaced by glutamine, an amino acid with highly similar properties. In resequencing of CNTNAP2 in 635 individuals with autism spectrum disorder and 942 controls, this variant was found only in the controls (Bakkaloglu B et al. Am. J. Hum. Genet., 2008 Jan;82:165-73). This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.
Illumina Laboratory Services, Illumina RCV001084928 SCV001320547 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.
Mayo Clinic Laboratories, Mayo Clinic RCV000724691 SCV001715974 uncertain significance not provided 2021-01-08 criteria provided, single submitter clinical testing

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