ClinVar Miner

Submissions for variant NM_001276345.2(TNNT2):c.412-94del

dbSNP: rs35559054
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000585922 SCV000697561 benign not provided 2017-07-10 criteria provided, single submitter clinical testing Variant summary: The TNNT2 c.382-94delC variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 337/30938 control chromosomes at a frequency of 0.0108928, which is approximately 44 times the estimated maximal expected allele frequency of a pathogenic TNNT2 variant (0.00025), suggesting this variant is likely a benign polymorphism. This variant was reported in HCM patients without strong evidence for causality (Erdmann_CG_2003, Jaaskelainen_AM_2004). The variant of interest has not, to our knowledge, been reported by reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Due to the high frequency of this variant in the general population, the lack of impact on protein structure, and the lack of predicted impact on splicing, this variant has been classified as benign.
GeneDx RCV000585922 SCV000975263 likely benign not provided 2018-06-19 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.
Genome-Nilou Lab RCV003446169 SCV004173783 benign Dilated cardiomyopathy 1D 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446170 SCV004173784 benign Cardiomyopathy, familial restrictive, 3 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446168 SCV004173785 benign Hypertrophic cardiomyopathy 2 2023-04-11 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.