ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.2731G>A (p.Val911Ile)

gnomAD frequency: 0.00014  dbSNP: rs141961878
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
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 RCV000040116 SCV000063807 likely benign not specified 2014-03-19 criteria provided, single submitter clinical testing Val911Ile in exon16 of TTN: This variant has been identified in 1/4406 African A merican chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washing ton.edu/EVS/; dbSNP rs141961878). It is not expected to have clinical significan ce due to a lack of evolutionary conservation. Of note, 4 mammalian species (gib bon, pika, white rhinoceros, and tasmanian devil) have an isoleucine (Ile) at th is position despite high nearby amino acid conservation.
Eurofins Ntd Llc (ga) RCV000725691 SCV000338650 uncertain significance not provided 2016-03-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000456367 SCV000542342 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2018-01-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002433509 SCV002745423 uncertain significance Cardiovascular phenotype 2019-08-27 criteria provided, single submitter clinical testing The p.V865I variant (also known as c.2593G>A), located in coding exon 14 of the TTN gene, results from a G to A substitution at nucleotide position 2593. The valine at codon 865 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species, and isoleucine is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV000725691 SCV003819746 uncertain significance not provided 2023-11-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000725691 SCV004148220 uncertain significance not provided 2022-04-01 criteria provided, single submitter clinical testing TTN: PM2, BP4
Athena Diagnostics RCV000725691 SCV004229378 uncertain significance not provided 2023-07-20 criteria provided, single submitter clinical testing Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is uninformative in assessment of its pathogenicity (http://gnomad.broadinstitute.org). Computational tools predict that this variant is not damaging.

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.