ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.1528G>A (p.Val510Ile) (rs143971158)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756095 SCV000883811 likely benign not provided 2017-06-30 criteria provided, single submitter clinical testing The p.Val510Ile variant (rs143971158) has not been reported in the medical literature but it has been reported to ClinVar (Variation ID 349181). The p.Val510Ile variant is listed in the Genome Aggregation Database (gnomAD) browser with an allele frequency of 0.6 percent in European (Finnish) population (identified on 152 out of 25,400 chromosomes, no homozygotes), and corresponding calculated carrier frequency of 1.2 percent. The estimated carrier frequency in general population, based on the estimated incidence of Ellis-van Creveld syndrome of 1 in 60,000 (D’Asdia 2013), would be approximately 0.8 percent. Thus, the calculated carrier frequency of 1.2 percent for this variant is about thirty percent greater than the estimated general carrier frequency of 0.8 for Ellis-van Creveld syndrome. The valine at position 510 is weakly conserved (Alamut software v2.9.0) with isoleucine present in several mammals including bush-baby and dog. Computational analyses of the effects of the variant on protein structure and function indicates neutral effect (SIFT: tolerated, MutationTaster: polymorphism, PolyPhen-2: benign). Altogether, based on the available evidence, we classified the p.Val510Ile variant as likely benign.
GeneDx RCV000613661 SCV000720055 likely benign not specified 2017-06-06 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.
Illumina Clinical Services Laboratory,Illumina RCV000378158 SCV000450267 likely benign Ellis-van Creveld Syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000283807 SCV000450268 likely benign Curry-Hall syndrome 2016-06-14 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.