ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.1823G>A (p.Arg608His) (rs145693546)

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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 RCV000386025 SCV000331447 uncertain significance not provided 2016-06-16 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000340148 SCV000450083 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.
Invitae RCV001085529 SCV000634696 benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2019-12-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001000371 SCV001157126 uncertain significance not specified 2018-12-10 criteria provided, single submitter clinical testing The EVC2 c.1823G>A; p.Arg608His variant (rs200190291), is reported in the literature in the heterozygous state in a fetus affected with a skeletal ciliopathy that also had a heterozygous c.6047A>G; p.Tyr2016Cys variant in the DYNC2H1 gene; a second variant was not identified in either gene (Zhang 2018). This variant is reported in ClinVar (Variation ID: 281122), and is found in the Ashkenazi Jewish population with an allele frequency of 1.2% (122/10,370 alleles) in the Genome Aggregation Database. The arginine at codon 608 is moderately conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. Due to limited information, the clinical significance of the p.Arg608His variant is uncertain at this time. References: Zhang W et al. Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies. Hum Mutat. 2018 Jan;39(1):152-166.
Dan Cohn Lab,University Of California Los Angeles RCV000515816 SCV000612128 uncertain significance Type IV short rib polydactyly syndrome 2017-06-01 no assertion criteria provided research

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