ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.8G>C (p.Arg3Pro) (rs756852655)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000724435 SCV000603496 uncertain significance not provided 2017-05-25 criteria provided, single submitter clinical testing The EVC c.8G>C; p.Arg3Pro (rs756852655), to our knowledge, is not described in the medical literature but is reported as a variant of uncertain clinical significance in ClinVar (Variation ID 193508) and is observed in the general population at an overall allele frequency of 0.17% (45/26668 alleles) in the Genome Aggregation Database. The arginine at codon 3 is weakly conserved and computational algorithms (SIFT: tolerated, PolyPhen-2: possibly damaging) predict conflicting effects of this variant on protein structure and/or function. Due to limited information regarding this variant, its clinical significance cannot be determined with certainty. Pathogenic EVC variants are associated with autosomal recessive Ellis-van Creveld syndrome (MIM:225500) and autosomal dominant Weyers acrodental dysostosis (MIM:193530).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724435 SCV000224706 uncertain significance not provided 2014-12-16 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000173582 SCV000594605 uncertain significance not specified 2016-08-26 criteria provided, single submitter clinical testing
Invitae RCV000637035 SCV000758483 uncertain significance Chondroectodermal dysplasia; Curry-Hall syndrome 2018-04-26 criteria provided, single submitter clinical testing This sequence change replaces arginine with proline at codon 3 of the EVC protein (p.Arg3Pro). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and proline. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with EVC-related disease. ClinVar contains an entry for this variant (Variation ID: 193508). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.

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