ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.12558A>G (p.Pro4186=)

gnomAD frequency: 0.00006  dbSNP: rs72648921
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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000041094 SCV000064785 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing Pro3948Pro in exon 45B of TTN: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 1/6594 European Ame rican chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs72648921). Pro3948Pro in exon 45B of TTN (rs72648921; allele frequency = 1/6594) **
Invitae RCV000869750 SCV001011204 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002336154 SCV002619187 benign Cardiovascular phenotype 2020-08-12 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: 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.