ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.100226G>A (p.Cys33409Tyr) (rs201112096)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 10
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172170 SCV000051246 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
GeneDx RCV000172170 SCV000237878 uncertain significance not provided 2018-04-24 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the TTN gene. The C31768Y variant (reported as C30841Y due to the use of an alternate transcript) has been published as a variant of uncertain significance in one individual from a cohort of individuals not selected for cardiomyopathy, arrhythmia, or family history of sudden cardiac death, who underwent exome sequencing (Ng et al., 2013). The C31768Y variant is observed in 16/102626 (0.016%) alleles from individuals of European (non-Finnish) ancestry in large population cohorts (Lek et al., 2016). The C31768Y variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign.
Illumina Clinical Services Laboratory,Illumina RCV000311753 SCV000420307 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000349981 SCV000420308 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000403284 SCV000420309 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000315180 SCV000420310 uncertain significance Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000362844 SCV000420311 uncertain significance Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000270805 SCV000420312 uncertain significance Hereditary myopathy with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000517499 SCV000615958 uncertain significance not specified 2017-04-12 criteria provided, single submitter clinical testing
Invitae RCV000172170 SCV000764766 likely benign not provided 2019-01-26 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.