ClinVar Miner

Submissions for variant NM_030665.4(RAI1):c.1925C>T (p.Ser642Leu)

gnomAD frequency: 0.00009  dbSNP: rs200061071
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
Genetic Services Laboratory, University of Chicago RCV000118108 SCV000152440 likely benign not specified 2016-05-27 criteria provided, single submitter clinical testing
GeneDx RCV001549349 SCV001769483 likely benign not provided 2020-08-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001549349 SCV002216327 benign not provided 2023-12-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002408622 SCV002719833 likely benign Inborn genetic diseases 2017-11-28 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.
CeGaT Center for Human Genetics Tuebingen RCV001549349 SCV004142346 likely benign not provided 2022-03-01 criteria provided, single submitter clinical testing RAI1: BP4
PreventionGenetics, part of Exact Sciences RCV003407507 SCV004110619 uncertain significance RAI1-related disorder 2024-05-13 no assertion criteria provided clinical testing The RAI1 c.1925C>T variant is predicted to result in the amino acid substitution p.Ser642Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.040% of alleles in individuals of Latino descent in gnomAD, which is likely too common for an undocumented disease-causing variant. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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.