Total submissions: 12
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000513738 | SCV000202512 | uncertain significance | not provided | 2018-09-06 | criteria provided, single submitter | clinical testing | |
Gene |
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, |
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, |
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, |
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. |
Ce |
RCV000513738 | SCV001502617 | likely benign | not provided | 2023-08-01 | criteria provided, single submitter | clinical testing | CNTNAP2: BS2 |
Mayo Clinic Laboratories, |
RCV000513738 | SCV002540911 | uncertain significance | not provided | 2021-04-13 | criteria provided, single submitter | clinical testing | |
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, |
RCV001251953 | SCV001427699 | uncertain significance | Intellectual disability | 2019-01-01 | no assertion criteria provided | clinical testing |