ClinVar Miner

Submissions for variant NM_007272.3(CTRC):c.737G>T (p.Arg246Leu)

dbSNP: rs147925927
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001222531 SCV001188713 likely benign Hereditary pancreatitis 2019-03-07 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001222531 SCV001394631 likely benign Hereditary pancreatitis 2022-08-22 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001509022 SCV001715507 uncertain significance not provided 2019-12-30 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001222531 SCV002050026 uncertain significance Hereditary pancreatitis 2020-10-07 criteria provided, single submitter clinical testing The CTRC c.737G>T; p.Arg246Leu variant (rs147925927), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 827004). This variant is found in the general population with an overall allele frequency of 0.004% (9/251236 alleles) in the Genome Aggregation Database. The arginine at codon 246 is weakly conserved, but computational analyses (REVEL) are uncertain whether this variant is neutral or deleterious. Due to limited information, the clinical significance of this variant is uncertain at this time.

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.