ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.55925T>A (p.Leu18642Gln) (rs140714512)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000251794 SCV000318038 uncertain significance Cardiovascular phenotype 2013-01-06 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172658 SCV000051316 likely benign not provided 2013-06-24 criteria provided, single submitter research
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000172658 SCV000332605 uncertain significance not provided 2015-06-23 criteria provided, single submitter clinical testing
GeneDx RCV000154653 SCV000237322 likely benign not specified 2018-02-07 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 RCV000299433 SCV000422743 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000356712 SCV000422744 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000400539 SCV000422745 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000298398 SCV000422746 uncertain significance Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000360237 SCV000422747 uncertain significance Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000264643 SCV000422748 uncertain significance Hereditary myopathy with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000465520 SCV000542392 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-12-20 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000154653 SCV000204329 uncertain significance not specified 2016-02-09 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Leu16074Gln v ariant in TTN has been identified by our laboratory in 5 Caucasian individuals w ith different cardiomyopathies (1 adult with DCM, 1 adult with DCM and skeletal myopathy, 1 adult with LVNC, 1 teenager with DCM and syndromic features, and 1 i nfant with HCM). This variant has been identified in 50/66574 European chromosom es by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; db SNP rs140714512). Computational prediction tools and conservation analysis sugg est that the p.Leu16074Gln variant may not impact the protein, though this infor mation is not predictive enough to rule out pathogenicity. In summary, while the clinical significance of the p.Leu16074Gln variant is uncertain, its frequency and lack of conservation suggests that it is more likely to be benign.

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