Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002315463 | SCV000849377 | uncertain significance | Inborn genetic diseases | 2017-04-17 | criteria provided, single submitter | clinical testing | The p.G411S variant (also known as c.1231G>A), located in coding exon 7 of the EHMT1 gene, results from a G to A substitution at nucleotide position 1231. The glycine at codon 411 is replaced by serine, an amino acid with 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. |
Invitae | RCV001445722 | SCV001648756 | likely benign | Kleefstra syndrome 1 | 2021-01-13 | criteria provided, single submitter | clinical testing |