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

gnomAD frequency: 0.00561  dbSNP: rs41269547

Total submissions: 15

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.
Labcorp Genetics (formerly Invitae), Labcorp	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	2024-01-01	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