ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.1826G>A (p.Arg609Gln) (rs41269557)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724535 SCV000225940 uncertain significance not provided 2015-02-13 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000268280 SCV000450285 uncertain significance Ellis-van Creveld syndrome 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx RCV000174617 SCV000518606 likely benign not specified 2016-08-25 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory,University of Chicago RCV000174617 SCV000594607 uncertain significance not specified 2017-04-25 criteria provided, single submitter clinical testing
Invitae RCV001080715 SCV000634718 likely benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000724535 SCV001154156 uncertain significance not provided 2016-05-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000174617 SCV001157094 uncertain significance not specified 2019-06-27 criteria provided, single submitter clinical testing The EVC c.1826G>A; p.Arg609Gln variant (rs41269557), to our knowledge, is not described in the medical literature but is reported as likely benign by several laboratories in ClinVar (Variation ID: 194282). It is observed in the general population at an overall frequency of 0.17% (314/183408 alleles) with increased frequency in the European (Non-Finnish) population (0.36%) in the Genome Aggregation Database. The arginine at codon 609 is weakly conserved, and computational algorithms (PolyPhen-2, SIFT) predict that this variant is tolerated. Due to limited information regarding this variant, its clinical significance cannot be determined with certainty. Pathogenic EVC variants are inherited in an autosomal recessive manner associated with Ellis-van Creveld syndrome (MIM: 225500) and in an autosomal dominant manner associated with Weyers acrodental dysostosis (MIM: 193530).

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