Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000658196 | SCV000779967 | uncertain significance | not provided | 2019-04-02 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Ambry Genetics | RCV002317905 | SCV000851461 | uncertain significance | Inborn genetic diseases | 2017-01-16 | criteria provided, single submitter | clinical testing | The p.P425S variant (also known as c.1273C>T), located in coding exon 5 of the CHRNA4 gene, results from a C to T substitution at nucleotide position 1273. The proline at codon 425 is replaced by serine, an amino acid with similar properties. This amino acid position is not well 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 variant remains unclear. |
Invitae | RCV001034411 | SCV001197759 | likely benign | Autosomal dominant nocturnal frontal lobe epilepsy | 2019-11-26 | criteria provided, single submitter | clinical testing |