Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV004383204 | SCV004866821 | uncertain significance | Inborn genetic diseases | 2024-02-26 | criteria provided, single submitter | clinical testing | The c.1094C>A (p.A365D) alteration is located in exon 8 (coding exon 8) of the EVC gene. This alteration results from a C to A substitution at nucleotide position 1094, causing the alanine (A) at amino acid position 365 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Labcorp Genetics |
RCV005220884 | SCV005867672 | uncertain significance | Ellis-van Creveld syndrome; Curry-Hall syndrome | 2024-11-19 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 365 of the EVC protein (p.Ala365Asp). This variant is present in population databases (rs771462565, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with EVC-related conditions. ClinVar contains an entry for this variant (Variation ID: 3090801). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed for this missense variant. However, the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on EVC 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. |