ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.9701A>G (p.Asn3234Ser)

gnomAD frequency: 0.00001  dbSNP: rs397517791
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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000040945 SCV000064636 uncertain significance not specified 2018-11-05 criteria provided, single submitter clinical testing The p.Asn3234Ser variant in TTN has been identified by our laboratory in 1 indi vidual with DCM. It has also been identified in 7/282532 chromosomes by gnomAD ( http://gnomad.broadinstitute.org). Computational prediction tools and conservati on analysis suggest that this variant may impact the protein, though this inform ation is not predictive enough to determine pathogenicity. In addition, this var iant is located in the last three bases of the exon, which is part of the 5? spl ice region. Computational tools do not suggest an impact to splicing. In summary , the clinical significance of the p.Asn3234Ser variant is uncertain. ACMG/AMP C riteria applied: PP3.
Ambry Genetics RCV002371854 SCV002690771 likely benign Cardiovascular phenotype 2020-05-18 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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.