Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001248107 | SCV001421572 | uncertain significance | Ellis-van Creveld syndrome; Curry-Hall syndrome | 2021-08-30 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine with cysteine at codon 190 of the EVC protein (p.Arg190Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with EVC-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0". The cysteine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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. |
Natera, |
RCV001830030 | SCV002083014 | uncertain significance | Ellis-van Creveld syndrome | 2020-11-25 | no assertion criteria provided | clinical testing |