ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.73G>A (p.Ala25Thr)

gnomAD frequency: 0.00101  dbSNP: rs200866893
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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000513738 SCV000202512 uncertain significance not provided 2018-09-06 criteria provided, single submitter clinical testing
GeneDx RCV000513738 SCV000240727 uncertain significance not provided 2023-02-01 criteria provided, single submitter clinical testing Reported previously in an individual with persistent developmental stuttering; however, the authors concluded that CNTNAP2 variants were not associated with stuttering (Han et al., 2014); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 20711234, 25822088, 24807205, 25167861)
Invitae RCV001082510 SCV000289932 likely benign Cortical dysplasia-focal epilepsy syndrome 2024-01-18 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000513738 SCV000611000 uncertain significance not provided 2017-05-11 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000513738 SCV000841675 uncertain significance not provided 2018-03-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002316963 SCV000851667 uncertain significance Inborn genetic diseases 2019-12-02 criteria provided, single submitter clinical testing The p.A25T variant (also known as c.73G>A), located in coding exon 1 of the CNTNAP2 gene, results from a G to A substitution at nucleotide position 73. The alanine at codon 25 is replaced by threonine, an amino acid with similar properties. This variant was reported in an intellectual disability cohort in one individual who had additional variants detected in other genes (Redin C et al. J. Med. Genet., 2014 Nov;51:724-36). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV000764694 SCV000895828 uncertain significance Autism, susceptibility to, 15; Cortical dysplasia-focal epilepsy syndrome 2018-10-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001082510 SCV001325872 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
CeGaT Center for Human Genetics Tuebingen RCV000513738 SCV001502617 likely benign not provided 2023-08-01 criteria provided, single submitter clinical testing CNTNAP2: BS2
Mayo Clinic Laboratories, Mayo Clinic RCV000513738 SCV002540911 uncertain significance not provided 2021-04-13 criteria provided, single submitter clinical testing
Revvity Omics, Revvity Omics RCV001082510 SCV003831086 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2022-03-11 criteria provided, single submitter clinical testing
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001251953 SCV001427699 uncertain significance Intellectual disability 2019-01-01 no assertion criteria provided clinical testing

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