Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000194723 | SCV000247666 | likely pathogenic | Developmental and epileptic encephalopathy, 7 | 2017-02-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002317691 | SCV000851780 | likely pathogenic | Inborn genetic diseases | 2018-08-16 | criteria provided, single submitter | clinical testing | The p.A235V variant (also known as c.704C>T), located in coding exon 5 of the KCNQ2 gene, results from a C to T substitution at nucleotide position 704. The alanine at codon 235 is replaced by valine, an amino acid with similar properties. This variant has been determined to be the result of a de novo mutation or germline mosaicism in two unrelated families with an isolated case of KCNQ2-related epileptic encephalopathy (Ambry internal data). This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the majority of available evidence to date, this variant is likely to be pathogenic. |