ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.32731G>A (p.Glu10911Lys) (rs199620003)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000184135 SCV000236752 likely benign not provided 2012-10-16 criteria provided, single submitter clinical testing The variant is found in DCM panel(s).
Invitae RCV000477233 SCV000542399 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-11-16 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000184135 SCV001152982 uncertain significance not provided 2016-12-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001285359 SCV001471777 uncertain significance none provided 2020-03-06 criteria provided, single submitter clinical testing The TTN c.32731G>A; p.Glu10911Lys variant (rs199620003; ClinVar Variation ID: 180571) is rare in the general population (<1% allele frequency in the Genome Aggregation Database) and has not been reported in the medical literature in association with dilated cardiomyopathy (DCM) or other TTN-related disease. The clinical relevance of rare missense variants in this gene, which are identified on average once per individual sequenced in affected populations (Herman 2012), is not well understood. Yet, evidence suggests that the vast majority of such missense variants do not contribute to the clinical outcome of DCM (Begay 2015). Thus, the clinical significance of the p.Glu10911Lys variant cannot be determined with certainty.
Blueprint Genetics RCV000157559 SCV000207305 uncertain significance Primary familial hypertrophic cardiomyopathy 2013-11-12 no assertion criteria provided clinical testing

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