Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001884310 | SCV002153964 | likely benign | Intellectual disability, CASK-related, X-linked | 2023-12-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002386665 | SCV002695442 | uncertain significance | Inborn genetic diseases | 2018-04-10 | criteria provided, single submitter | clinical testing | The p.E333K variant (also known as c.997G>A), located in coding exon 10 of the CASK gene, results from a G to A substitution at nucleotide position 997. The glutamic acid at codon 333 is replaced by lysine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Gene |
RCV002463059 | SCV002756752 | uncertain significance | not provided | 2022-05-16 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |