ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.296-14T>C (rs199951296)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000152537 SCV000169585 benign not specified 2013-08-19 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.
Illumina Clinical Services Laboratory,Illumina RCV000351124 SCV000425360 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000400585 SCV000425361 uncertain significance Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000287900 SCV000425362 uncertain significance Hereditary myopathy with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000347569 SCV000425363 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000400683 SCV000425364 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000302999 SCV000425365 uncertain significance Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000152537 SCV000201737 uncertain significance not specified 2013-08-02 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The 296-14T>C varia nt in TTN has not been reported in individuals with cardiomyopathy, but has been identified in 0.1% (12/8600) of European American chromosomes by the NHLBI Exom e Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs199951296). Thi s variant is located in the 3' splice region. Computational tools do not suggest a strong impact on splicing, though this information is not predictive enough t o rule out pathogenicity. While the frequency of this variant suggests that it i s more likely to be benign, it is too low to confidently rule out a disease caus ing role. At this time, additional information is needed to fully assess its cli nical significance.

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