ClinVar Miner

Submissions for variant NM_020975.6(RET):c.3040-3C>T

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003050908 SCV003445425 uncertain significance Multiple endocrine neoplasia, type 2 2023-01-07 criteria provided, single submitter clinical testing Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. This variant has not been reported in the literature in individuals affected with RET-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.006%). This sequence change falls in intron 18 of the RET gene. It does not directly change the encoded amino acid sequence of the RET protein. It affects a nucleotide within the consensus splice site. 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.
All of Us Research Program, National Institutes of Health RCV003050908 SCV004826606 likely benign Multiple endocrine neoplasia, type 2 2023-08-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV004948946 SCV005490970 uncertain significance Hereditary cancer-predisposing syndrome 2024-11-18 criteria provided, single submitter clinical testing The c.3040-3C>T intronic variant results from a C to T substitution 3 nucleotides upstream from coding exon 19 in the RET gene. This nucleotide position is poorly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Based on the available evidence, the clinical significance of this variant remains unclear.

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.