ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.589G>T (p.Ala197Ser)

dbSNP: rs115507440
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000950901 SCV001097244 likely benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2024-01-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811546 SCV001472605 uncertain significance not provided 2020-01-16 criteria provided, single submitter clinical testing The EVC c.589G>T; p.Ala197Ser variant (rs115507440), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 771565). This variant is found in the African population with an allele frequency of 0.27% (68/24946 alleles) in the Genome Aggregation Database. The alanine at codon 197 is weakly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. Due to limited information, the clinical significance of the p.Ala197Ser variant is uncertain at this time.
GeneDx RCV001811546 SCV003924628 uncertain significance not provided 2023-05-09 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV004029812 SCV004866842 likely benign Inborn genetic diseases 2023-12-16 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Natera, Inc. RCV001276227 SCV001462221 uncertain significance Ellis-van Creveld syndrome 2020-04-21 no assertion criteria provided 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.