ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.550C>T (p.Arg184Cys)

gnomAD frequency: 0.00003  dbSNP: rs773218631
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000309942 SCV000450108 uncertain significance Ellis-van Creveld syndrome 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756102 SCV000883820 uncertain significance not provided 2017-10-24 criteria provided, single submitter clinical testing
Invitae RCV002520252 SCV003250106 uncertain significance Ellis-van Creveld syndrome; Curry-Hall syndrome 2022-06-13 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 184 of the EVC2 protein (p.Arg184Cys). This variant is present in population databases (rs773218631, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with EVC2-related conditions. ClinVar contains an entry for this variant (Variation ID: 349096). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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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