Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001069543 | SCV001234717 | uncertain significance | Ellis-van Creveld syndrome; Curry-Hall syndrome | 2021-08-28 | criteria provided, single submitter | clinical testing | This sequence change replaces serine with cysteine at codon 583 of the EVC2 protein (p.Ser583Cys). The serine residue is moderately conserved and there is a moderate physicochemical difference between serine 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 EVC2-related conditions. 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: "Possibly Damaging"; Align-GVGD: "Class C15"). 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 | RCV002554582 | SCV003587899 | uncertain significance | Inborn genetic diseases | 2021-12-07 | criteria provided, single submitter | clinical testing | The c.1747A>T (p.S583C) alteration is located in exon 12 (coding exon 12) of the EVC2 gene. This alteration results from a A to T substitution at nucleotide position 1747, causing the serine (S) at amino acid position 583 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |