ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.36196G>A (p.Asp12066Asn)

gnomAD frequency: 0.00039  dbSNP: rs140655598
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
New York Genome Center RCV001281442 SCV001468750 uncertain significance Brugada syndrome 2019-07-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002480931 SCV002776651 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 2021-09-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004538563 SCV004121391 uncertain significance TTN-related disorder 2023-05-25 criteria provided, single submitter clinical testing The TTN c.36196G>A variant is predicted to result in the amino acid substitution p.Asp12066Asn. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.087% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-179529387-C-T). Although we suspect that this variant may be benign, 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.