ClinVar Miner

Submissions for variant NM_024809.5(TCTN2):c.1234+5C>G (rs201382614)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000476936 SCV000547918 uncertain significance Joubert syndrome; Meckel-Gruber syndrome 2016-11-07 criteria provided, single submitter clinical testing This sequence change falls in intron 10 of the TCTN2 gene. It does not directly change the encoded amino acid sequence of the TCTN2 protein, but it affects a nucleotide within the consensus splice site of the intron. This variant is present in population databases (rs201382614, ExAC 0.06%) but has not been reported in the literature in individuals with a TCTN2-related disease. Nucleotide substitutions within the consensus splice site are relatively common causes of aberrant splicing (PMID: 17576681, 9536098) but according to multiple splice site algorithms this particular variant is not predicted to significantly affect splicing. These predictions have not been confirmed by published functional studies. In summary, this is a rare intronic change with uncertain impact on splicing. 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.