ClinVar Miner

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

gnomAD frequency: 0.00014  dbSNP: rs199620003
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Total submissions: 7
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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; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-11-16 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000184135 SCV001152982 uncertain significance not provided 2016-12-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000184135 SCV001471777 uncertain significance not 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.
Revvity Omics, Revvity RCV000184135 SCV003820196 uncertain significance not provided 2021-02-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003952792 SCV004770292 likely benign TTN-related condition 2023-04-11 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Blueprint Genetics RCV000157559 SCV000207305 uncertain significance Primary familial hypertrophic cardiomyopathy 2013-11-12 no assertion criteria provided clinical testing

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