ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.39466C>A (p.Pro13156Thr) (rs72650064)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000243216 SCV000318686 uncertain significance Cardiovascular phenotype 2013-05-08 criteria provided, single submitter clinical testing
Blueprint Genetics RCV000157561 SCV000207307 uncertain significance Primary familial hypertrophic cardiomyopathy 2013-11-08 no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724471 SCV000226545 uncertain significance not provided 2015-02-09 criteria provided, single submitter clinical testing
GeneDx RCV000154956 SCV000237131 likely benign not specified 2017-11-30 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.
Invitae RCV000474522 SCV000555534 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-12-10 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000154956 SCV000204638 uncertain significance not specified 2014-06-30 criteria provided, single submitter clinical testing The Pro10722Thr variant in TTN has not been previously reported in individuals w ith cardiomyopathy, but has been identified in 5/8168 of European American chrom osomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs72650064). Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the Pro10722Thr variant is uncertain.

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