ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.8609A>T (p.Gln2870Leu)

gnomAD frequency: 0.00001  dbSNP: rs372008728
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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000040803 SCV000064494 uncertain significance not specified 2012-07-02 criteria provided, single submitter clinical testing The Gln2870Leu variant in TTN has not been reported in the literature, but has b een identified in 1 individual with DCM tested by our laboratory. This variant h as not been identified in a very large and broad population by the NHLBI Exome S equencing Project (http://evs.gs.washington.edu/EVS). This low frequency is cons istent with a disease causing role, but insufficient to establish this with conf idence. Computational analyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein. Additional information is needed to fully assess the cli nical significance of the Gln2870Leu variant.

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.