ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.4709G>C (p.Gly1570Ala)

gnomAD frequency: 0.00006  dbSNP: rs199910114
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
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 RCV000040365 SCV000064056 uncertain significance not specified 2012-02-23 criteria provided, single submitter clinical testing The Gly1570Ala variant (TTN) has been identified in 3/3738 African American chro mosomes from a broad population by the NHBLI Exome Sequencing Project (http://ev s.gs.washington.edu/EVS). Glycine (Gly) at position 1570 is highly conserved in mammals and across evolutionarily distant species, though computational analyses (biochemical amino acid properties, AlignGVGD, and SIFT) do not provide strong support for or against an impact to the protein. Additional information is neede d to fully assess the clinical significance of the Gly1570Ala variant.
GeneDx RCV001719773 SCV000715769 likely benign not provided 2021-01-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002336142 SCV002636996 likely benign Cardiovascular phenotype 2020-09-23 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.
Revvity Omics, Revvity RCV001719773 SCV003819647 uncertain significance not provided 2020-02-12 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.