ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.25942A>G (p.Lys8648Glu) (rs188234466)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724263 SCV000232870 uncertain significance not provided 2014-10-27 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000329768 SCV000424046 uncertain significance Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000375048 SCV000424047 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000280133 SCV000424048 uncertain significance Hereditary myopathy with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000335156 SCV000424049 uncertain significance Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000392294 SCV000424050 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000286098 SCV000424051 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000222950 SCV000272605 uncertain significance not specified 2015-04-18 criteria provided, single submitter clinical testing The p.Lys7404Glu variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 3/11516 Latino chromosomes by th e Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs18 8234466). Computational prediction tools and conservation analysis do not provid e strong support for or against an impact to the protein. In summary, the clinic al significance of the p.Lys7404Glu variant is uncertain.

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