ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.1693del (p.Ser565fs)

dbSNP: rs1085307619
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 RCV000489754 SCV000576868 uncertain significance not provided 2017-04-17 criteria provided, single submitter clinical testing The c.1693delT variant in the TTN gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.1693del variant causes a frameshift starting with codon Serine 565, changes this amino acid to a Proline residue, and creates a premature Stop codon at position 4 of the new reading frame, denoted p.Ser565ProfsX4. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. However, the c.1693delT variant is located within the Z-disk region of TTN. The c.1693delT variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.1693delT as a variant of uncertain significance.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000770159 SCV000901585 uncertain significance Cardiomyopathy 2017-07-31 criteria provided, single submitter clinical testing

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.