ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.3445G>A (p.Asp1149Asn) (rs368967197)

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
GeneDx RCV000152516 SCV000725476 likely benign not specified 2017-11-30 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000152516 SCV000201696 uncertain significance not specified 2019-02-27 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Asp1149Asn va riant in TTN has been identified in 1 individual with DCM who also had an additi onal splice site variant in TTN (LMM data). It has been identified in 0.016% (4/ 24970) of African chromosomes by gnomAD (http://gnomad.broadinstitute.org). Comp utational prediction tools and conservation analysis do not provide strong suppo rt for or against an impact to the protein. In summary, while the clinical signi ficance of this variant is uncertain, its frequency suggests that it is more lik ely to be benign. ACMG/AMP Criteria applied: BS1_Supporting.

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.