ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.53012C>T (p.Ala17671Val)

gnomAD frequency: 0.00011  dbSNP: rs549478203
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
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 RCV000152326 SCV000201215 uncertain significance not specified 2017-11-06 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Ala15103Val v ariant in TTN has not been previously reported in individuals with cardiomyopath y, but has been identified in 5/23972 of African chromosomes by the Genome Aggre gation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs549478203). A lanine (Ala) at position 15103 is not conserved in mammals or evolutionarily dis tant species and at least 10 fish species carry a valine (Val) at this position, raising the possibility that a change at this position may be tolerated. Additi onal computational prediction tools suggest that this variant may not impact the protein, though this information is not predictive enough to rule out pathogeni city. In summary, while the clinical significance of the p.Ala15103Val variant i s uncertain, these data suggest that it is more likely to be benign. ACMG/AMP Cr iteria applied: BP4 (Richards 2015).
Ambry Genetics RCV000250139 SCV000318713 uncertain significance Cardiovascular phenotype 2013-05-30 criteria provided, single submitter clinical testing There is insufficient or conflicting evidence for classification of this alteration.
Labcorp Genetics (formerly Invitae), Labcorp RCV000541819 SCV000643332 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-12-12 criteria provided, single submitter clinical testing
GeneDx RCV000152326 SCV000719582 likely benign not specified 2017-05-16 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.
Revvity Omics, Revvity RCV003137656 SCV003825510 uncertain significance not provided 2020-10-06 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV000152326 SCV006068785 likely benign not specified 2025-04-09 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.