ClinVar Miner

Submissions for variant NM_020975.6(RET):c.1529C>T (p.Ala510Val)

gnomAD frequency: 0.00019  dbSNP: rs201745826
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000166168 SCV000216943 likely benign Hereditary cancer-predisposing syndrome 2021-02-01 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Invitae RCV001083604 SCV000218864 likely benign Multiple endocrine neoplasia, type 2 2024-02-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003891440 SCV000807006 likely benign RET-related condition 2023-03-15 criteria provided, single submitter 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).
Mendelics RCV000709114 SCV000838384 benign Multiple endocrine neoplasia, type 2a 2018-07-02 criteria provided, single submitter clinical testing
GeneDx RCV000679718 SCV001777461 likely benign not provided 2021-04-22 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 30877234, 21479187, 28946813, 20103606, 21834681, 25725622)
Sema4, Sema4 RCV000166168 SCV002529932 uncertain significance Hereditary cancer-predisposing syndrome 2021-10-25 criteria provided, single submitter curation

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.