ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.58576G>A (p.Val19526Ile) (rs377682563)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172656 SCV000051158 likely benign not provided 2013-06-24 criteria provided, single submitter research
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000172656 SCV000336464 uncertain significance not provided 2016-11-16 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000305237 SCV000422623 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000360816 SCV000422624 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000266149 SCV000422625 uncertain significance Hereditary myopathy with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000321127 SCV000422626 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000385028 SCV000422627 uncertain significance Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000272074 SCV000422628 uncertain significance Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000471860 SCV000542427 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-06-21 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000311922 SCV000711408 uncertain significance not specified 2017-06-05 criteria provided, single submitter clinical testing The p.Val16958Ile variant in TTN has not been previously reported in individuals with myopathy, but has been identified in 0.03% (32/125888) of European chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; rs377682563). Computational prediction tools and conservation analysis suggest t hat the p.Val16958Ile variant may not impact the protein, though this informatio n is not predictive enough to rule out pathogenicity. In summary, the clinical s ignificance of the p.Val16958Ile variant is uncertain.

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