ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.81464T>C (p.Ile27155Thr) (rs397517720)

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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 RCV000040666 SCV000064357 uncertain significance not specified 2012-10-31 criteria provided, single submitter clinical testing The Ile24587Thr variant in TTN has not been reported in the literature nor previ ously identified by our laboratory or in large and broad European American and A frican American populations screened by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS/). This data is insufficient to assess the clinica l significance of this variant. The affected amino acid is not well conserved in evolution, suggesting that a change would be tolerated but additional informati on is needed to fully assess the clinical significance of the Ile24587Thr varian t.
Invitae RCV000524889 SCV000643746 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-10-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617267 SCV000737306 likely benign Cardiovascular phenotype 2020-03-20 criteria provided, single submitter clinical testing In silico models in agreement (benign);Insufficient evidence
CeGaT Praxis fuer Humangenetik Tuebingen RCV000997379 SCV001152723 uncertain significance not provided 2019-10-01 criteria provided, single submitter clinical testing

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