ClinVar Miner

Submissions for variant NM_020975.6(RET):c.1878G>A (p.Gln626=)

gnomAD frequency: 0.00003  dbSNP: rs147692872
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000468334 SCV000543832 uncertain significance Multiple endocrine neoplasia, type 2 2025-01-29 criteria provided, single submitter clinical testing This sequence change affects codon 626 of the RET mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the RET protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs147692872, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with RET-related conditions. ClinVar contains an entry for this variant (Variation ID: 405550). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Counsyl RCV000662530 SCV000785096 uncertain significance Multiple endocrine neoplasia type 2A 2017-10-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV001013505 SCV001174098 likely benign Hereditary cancer-predisposing syndrome 2015-08-19 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.
Sema4, Sema4 RCV001013505 SCV002529951 likely benign Hereditary cancer-predisposing syndrome 2021-10-07 criteria provided, single submitter curation
Myriad Genetics, Inc. RCV000662530 SCV004018048 likely benign Multiple endocrine neoplasia type 2A 2023-04-17 criteria provided, single submitter clinical testing This variant is considered likely benign. This variant has been observed at a population frequency that is significantly greater than expected given the associated disease prevalence and penetrance.
All of Us Research Program, National Institutes of Health RCV000468334 SCV004822207 likely benign Multiple endocrine neoplasia, type 2 2023-11-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004740226 SCV005366120 likely benign RET-related disorder 2024-05-21 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.