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 (; 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 RCV001704126 SCV000714766 likely benign not provided 2020-11-10 criteria provided, single submitter clinical testing

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