Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001202417 | SCV001373528 | uncertain significance | Kleefstra syndrome 1 | 2020-03-05 | criteria provided, single submitter | clinical testing | This variant is reported as two separate entries in the ExAC population database (c.3174T>C, ExAC 0.01% and c.3175C>G, ExAC no frequency). This sequence change replaces leucine with valine at codon 1059 of the EHMT1 protein (p.Leu1059Val). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and valine. This variant has not been reported in the literature in individuals with EHMT1-related conditions. 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0"). |