ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.92806G>A (p.Val30936Ile) (rs200476500)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000155822 SCV000616177 uncertain significance not specified 2017-03-14 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172198 SCV000051115 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000172198 SCV000333453 uncertain significance not provided 2015-08-04 criteria provided, single submitter clinical testing
GeneDx RCV000155822 SCV000237771 likely benign not specified 2017-08-03 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 RCV000326179 SCV000420817 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000380708 SCV000420818 uncertain significance Hereditary myopathy with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000286331 SCV000420819 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000322760 SCV000420820 uncertain significance Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000377371 SCV000420821 uncertain significance Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000282938 SCV000420822 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000466689 SCV000542801 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-06-13 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000155822 SCV000205533 likely benign not specified 2014-09-12 criteria provided, single submitter clinical testing Val28368Ile in exon 288 of TTN: This variant is not expected to have clinical si gnificance due to a lack of conservation across species, including mammals. Of n ote, >30 mammals, include multiple primates, have an isoleucine (Ile) at this po sition despite high nearby amino acid conservation. In addition, this variant ha s been identified in 1/8296 European American chromosomes by the NHLBI Exome Seq uencing Project (http://evs.gs.washington.edu/EVS/) and in 1/594 European chromo somes by the ClinSeq Project (dbSNP rs200476500).

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