ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.1398+4C>T (rs368548209)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725255 SCV000335357 uncertain significance not provided 2018-08-23 criteria provided, single submitter clinical testing
GeneDx RCV000152529 SCV000529427 likely benign not specified 2016-07-07 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 RCV000280402 SCV000425276 uncertain significance Hereditary myopathy with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000337828 SCV000425277 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000400060 SCV000425278 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000279380 SCV000425279 uncertain significance Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000351565 SCV000425280 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000408421 SCV000425281 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 RCV000152529 SCV000201720 uncertain significance not specified 2013-10-29 criteria provided, single submitter clinical testing The 1398+4C>T variant in TTN has been previously reported in one individual with HCM who carried a pathogenic variant in MYH7 (Lopes 2013). In addition, it has been identified in 4/8600 European American chromosomes by the NHLBI Exome Seque ncing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs368548209). This varia nt is located in the 5' splice region. Computational tools do not suggest an imp act to splicing, though this information is not predictive enough to rule out pa thogenicity. In summary, additional information is needed to fully assess the cl inical significance of this variant.

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