ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.284A>G (p.Asp95Gly)

gnomAD frequency: 0.00561  dbSNP: rs41269547
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Total submissions: 15
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000175994 SCV000227574 benign not specified 2015-02-14 criteria provided, single submitter clinical testing
Preventiongenetics, part of Exact Sciences RCV000175994 SCV000316377 likely benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000297070 SCV000450134 likely benign 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 and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000427833 SCV000511709 likely benign not provided 2017-02-13 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Invitae RCV001083424 SCV000634724 benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000175994 SCV000728827 benign not specified 2018-01-14 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.
CeGaT Center for Human Genetics Tuebingen RCV000427833 SCV001154154 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing EVC: BP4, BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000427833 SCV001157161 benign not provided 2023-10-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000297070 SCV001653480 likely benign Ellis-van Creveld syndrome 2021-05-18 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000175994 SCV002064889 benign not specified 2018-02-28 criteria provided, single submitter clinical testing
Sydney Genome Diagnostics, Children's Hospital Westmead RCV001328200 SCV001449318 uncertain significance Nephronophthisis 2018-10-25 no assertion criteria provided clinical testing This patient is heterozygous for a variant of unknown clinical significance (VOUS), c.284A>G p.(Asp95Gly) in the EVC gene. To our knowledge, this variant has not been previously reported in the literature. However, this variant has been reported in dbSNP (rs4126957) with a minor allele frequency (MAF) of 0.0067 in the European American population (n=8600). In silico analysis (Alamut Visual v2.4) is inconclusive regarding this variant, Align GVGD, MutationTaster and KD4v predicts it to be benign whereas PolyPhen2 and SIFT predicts it to be pathogenic. Alamut v2.4 also predicts this variant does not affect splicing.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000175994 SCV001800721 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000175994 SCV001927123 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000427833 SCV001969356 likely benign not provided no assertion criteria provided clinical testing
Natera, Inc. RCV000297070 SCV002083012 likely benign Ellis-van Creveld syndrome 2019-12-04 no assertion criteria provided clinical testing

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