Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000177337 | SCV000229184 | uncertain significance | not provided | 2015-04-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002516737 | SCV003257344 | uncertain significance | Kleefstra syndrome 1 | 2022-12-31 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 196517). This variant has not been reported in the literature in individuals affected with EHMT1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 31 of the EHMT1 protein (p.Pro31Ser). |
Institute of Human Genetics, |
RCV002516737 | SCV003836806 | likely benign | Kleefstra syndrome 1 | 2023-03-08 | criteria provided, single submitter | clinical testing | This variant has been identified by standard clinical testing. |