Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002436976 | SCV002747063 | uncertain significance | Inborn genetic diseases | 2019-03-21 | criteria provided, single submitter | clinical testing | The p.V96L variant (also known as c.286G>C), located in coding exon 3 of the PNKP gene, results from a G to C substitution at nucleotide position 286. The valine at codon 96 is replaced by leucine, an amino acid with highly 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 limited at this time, the clinical significance of this alteration remains unclear. |
Service de Génétique Moléculaire, |
RCV001255767 | SCV001432365 | likely pathogenic | Microcephaly, seizures, and developmental delay | no assertion criteria provided | clinical testing |