Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics Munich, |
RCV000005672 | SCV000680219 | pathogenic | Ellis-van Creveld syndrome | 2017-12-09 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000005672 | SCV000789079 | likely pathogenic | Ellis-van Creveld syndrome | 2017-01-05 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001383029 | SCV001582037 | pathogenic | Ellis-van Creveld syndrome; Curry-Hall syndrome | 2024-10-24 | criteria provided, single submitter | clinical testing | This sequence change replaces serine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 307 of the EVC protein (p.Ser307Pro). This variant is present in population databases (rs121908426, gnomAD 0.01%). This missense change has been observed in individual(s) with EVC-related conditions (PMID: 10700184, 29321360). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 5343). 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. For these reasons, this variant has been classified as Pathogenic. |
Laboratory of Medical Genetics, |
RCV000005672 | SCV005051759 | pathogenic | Ellis-van Creveld syndrome | 2024-02-01 | criteria provided, single submitter | curation | |
OMIM | RCV000005672 | SCV000025853 | pathogenic | Ellis-van Creveld syndrome | 2013-02-01 | no assertion criteria provided | literature only | |
Natera, |
RCV000005672 | SCV002083021 | pathogenic | Ellis-van Creveld syndrome | 2021-08-12 | no assertion criteria provided | clinical testing | |
OMIM | RCV005259981 | SCV005911586 | pathogenic | Curry-Hall syndrome | 2013-02-01 | no assertion criteria provided | literature only |