Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000187239 | SCV000240821 | uncertain significance | not provided | 2014-05-29 | criteria provided, single submitter | clinical testing | p.Ser1261Ala (TCG>GCG): c.3781 T>G in exon 23 of the CNTNAP2 gene (NM_014141.5). The S1261A variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The S1261A variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. However, in silico analysis predicts this variant likely does not alter the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in INFANT-EPI panel(s). |
Illumina Laboratory Services, |
RCV001159173 | SCV001320861 | uncertain significance | 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease. |
Ambry Genetics | RCV002345667 | SCV002620445 | uncertain significance | Inborn genetic diseases | 2018-11-26 | criteria provided, single submitter | clinical testing | The p.S1261A variant (also known as c.3781T>G), located in coding exon 23 of the CNTNAP2 gene, results from a T to G substitution at nucleotide position 3781. The serine at codon 1261 is replaced by alanine, an amino acid with similar properties. 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 conflicting at this time, the clinical significance of this alteration remains unclear. |
Revvity Omics, |
RCV001159173 | SCV003831104 | uncertain significance | Cortical dysplasia-focal epilepsy syndrome | 2020-02-27 | criteria provided, single submitter | clinical testing |