ClinVar Miner

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

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
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
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).
Invitae RCV001085964 SCV000758483 likely benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001153146 SCV001314408 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.

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