ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.18943G>A (p.Val6315Met)

gnomAD frequency: 0.00002  dbSNP: rs770552574
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000503527 SCV000597672 uncertain significance not specified 2016-09-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004735580 SCV005357872 uncertain significance TTN-related disorder 2024-09-25 no assertion criteria provided clinical testing The TTN c.18943G>A variant is predicted to result in the amino acid substitution p.Val6315Met. This variant was reported to occur de novo in a cohort study of individuals with developmental disorders; however pathogenicity was not established (Supp. Table 1 Kaplanis et al. 2020. PubMed ID: 33057194; Supp Table 2 Turner et al. 2019. PubMed ID: 31785789; McRae et al. 2017. PubMed ID: 28135719). This variant is reported in 0.011% of alleles in individuals of East Asian descent in gnomAD. 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.