ClinVar Miner

Submissions for variant NM_003321.5(TUFM):c.1195-3T>C

gnomAD frequency: 0.00009  dbSNP: rs376169369
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
Illumina Laboratory Services, Illumina RCV000354885 SCV000396355 uncertain significance Combined oxidative phosphorylation deficiency 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001582957 SCV001820345 likely benign not provided 2019-02-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001582957 SCV002251585 uncertain significance not provided 2022-08-16 criteria provided, single submitter clinical testing This sequence change falls in intron 9 of the TUFM gene. It does not directly change the encoded amino acid sequence of the TUFM protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs376169369, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with TUFM-related conditions. ClinVar contains an entry for this variant (Variation ID: 318743). 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 may create or strengthen a 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.

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.