ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.102190G>A (p.Ala34064Thr) (rs200237973)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000246004 SCV000318357 uncertain significance Cardiovascular phenotype 2013-03-06 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172607 SCV000051292 likely benign not provided 2013-06-24 criteria provided, single submitter research
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000172607 SCV000229377 uncertain significance not provided 2015-05-13 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000324272 SCV000420193 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000378875 SCV000420194 uncertain significance Hereditary myopathy with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000279530 SCV000420195 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000316166 SCV000420196 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000375400 SCV000420197 uncertain significance Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000280823 SCV000420198 uncertain significance Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000466398 SCV000543013 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-11-03 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040916 SCV000064607 uncertain significance not specified 2015-02-18 criteria provided, single submitter clinical testing The p.Ala31496Thr variant in TTN has been identified by our laboratory in two in dividuals: an infant with DCM and adolescent with HCM. In addition, this variant has been identified in 22/66708 European chromosomes by the Exome Aggregation C onsortium (ExAC, http://exac.broadinstitute.org; dbSNP rs200237973). Computation al prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, the clinical significance of th e p.Ala31496Thr variant is uncertain.

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