ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.24622G>A (p.Glu8208Lys) (rs190192954)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000154972 SCV000204654 uncertain significance not specified 2014-05-01 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Glu6964Lys vari ant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 2/3868 African American chromosomes by the NHLBI Exom e Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs190192954). Com putational prediction tools and conservation analysis do not provide strong supp ort for or against an impact to the protein, though 1 mammal (bush-tailed rat) c arries a lysine (Lys) at this position raising the possibility that this change may be tolerated. In summary, the clinical significance of the Glu6964Lys varian t is uncertain.
Invitae RCV000531149 SCV000642856 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-05-31 criteria provided, single submitter clinical testing
GeneDx RCV000154972 SCV000714766 likely benign not specified 2017-04-19 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.

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