Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000866708 | SCV001007840 | likely benign | Familial focal epilepsy with variable foci | 2023-11-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002390777 | SCV002668618 | uncertain significance | Inborn genetic diseases | 2018-07-27 | criteria provided, single submitter | clinical testing | The p.F250V variant (also known as c.748T>G), located in coding exon 11 of the DEPDC5 gene, results from a T to G substitution at nucleotide position 748. The phenylalanine at codon 250 is replaced by valine, an amino acid with highly similar properties. This amino acid position is 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 alteration remains unclear. |