ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.95521A>G (p.Asn31841Asp)

gnomAD frequency: 0.00002  dbSNP: rs794729540
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
GeneDx RCV000213316 SCV000237809 uncertain significance not specified 2014-09-03 criteria provided, single submitter clinical testing Missense variants in the TTN gene are considered 'unclassified' if they are not previously reported in the literature and do not have >1% frequency in the population to be considered a polymorphism. Research indicates that truncating mutations in the TTN gene are expected to account for approximately 25% of familial and 18% of sporadic idiopathic DCM; however, truncating variants in the TTN gene have been reported in approximately 3% of reported control alleles. There has been little investigation into non-truncating variants. (Herman D et al. Truncations of titin causing dilated cardiomyopathy. N Eng J Med 366:619-628, 2012) The variant is found in DCM-CRDM panel(s).
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000213316 SCV000272803 uncertain significance not specified 2015-03-06 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Asn29273Asp v ariant in TTN has not been previously reported in individuals with cardiomyopath y or large population studies. Asparagine (Asp) at position 29273 is not conserv ed in mammals or evolutionarily distant species with multiple birds having an as partic acid (Asp), which suggests that this change may be tolerated. Other compu tational prediction tools do not provide strong support for or against an impact to the protein. In summary, while the clinical significance of the p.Asn29273As p variant is uncertain, the presence of the variant amino acid in multiple other species suggests that it is more likely to be benign.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769877 SCV000901303 uncertain significance Cardiomyopathy 2017-06-09 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.