ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.4081A>C (p.Ile1361Leu) (rs145308734)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000221874 SCV000272662 uncertain significance not specified 2015-03-20 criteria provided, single submitter clinical testing The p.Ile1361Leu variant in TTN has been identified by our laboratory in 1 Black adolescent with DCM and in 1/66602 European chromosomes and 1/10390 African chr omosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.o rg; dbSNP rs145308734). Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summa ry, the clinical significance of the p.Ile1361Leu variant is uncertain.
Invitae RCV000532189 SCV000643128 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-12-27 criteria provided, single submitter clinical testing
GeneDx RCV000221874 SCV000714556 likely benign not specified 2017-07-05 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.
Ambry Genetics RCV000617303 SCV000736825 likely benign Cardiovascular phenotype 2020-05-28 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification

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