ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.919T>C (p.Ser307Pro)

gnomAD frequency: 0.00001  dbSNP: rs121908426
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 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 (formerly Invitae), Labcorp 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, National & Kapodistrian University of Athens 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, Inc. 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

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