Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV003063222 | SCV003456256 | uncertain significance | Ellis-van Creveld syndrome; Curry-Hall syndrome | 2022-07-30 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 703 of the EVC2 protein (p.Ala703Val). This variant is present in population databases (rs754954578, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with EVC2-related conditions. 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 valine 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. |
| Ambry Genetics | RCV003063221 | SCV003664427 | uncertain significance | Inborn genetic diseases | 2022-11-30 | criteria provided, single submitter | clinical testing | The c.2108C>T (p.A703V) alteration is located in exon 14 (coding exon 14) of the EVC2 gene. This alteration results from a C to T substitution at nucleotide position 2108, causing the alanine (A) at amino acid position 703 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |