ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.20341G>A (p.Glu6781Lys) (rs72648958)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000172694 SCV000616018 uncertain significance not provided 2018-01-04 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172694 SCV000051449 likely benign not provided 2013-06-24 criteria provided, single submitter research
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000172694 SCV000333068 uncertain significance not provided 2018-08-30 criteria provided, single submitter clinical testing
GeneDx RCV000039941 SCV000238282 likely benign not specified 2017-11-27 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.
Genetic Services Laboratory, University of Chicago RCV000039941 SCV000597705 uncertain significance not specified 2016-09-20 criteria provided, single submitter clinical testing
Invitae RCV000231823 SCV000286491 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2018-01-11 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000039941 SCV000063632 uncertain significance not specified 2014-09-19 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Glu5537Lys va riant in TTN has been identified by our laboratory in 1 Caucasian adult with HCM who also carried a likely disease-causing variant in another gene, 1 adult of u nspecified ethnicity with DCM, and 1 African American infant with severe RVH. Th is variant has also been identified in 0.1% (12/8216) of European American chrom osomes by the NHLBI Exome Sequencing Project (, Ng 2013; dbSNP rs72648958). Computational prediction tools and conservation ana lysis do not provide strong support for or against an impact to the protein. In summary, while the clinical significance of the p.Glu5537Lys variant is uncertai n, its presence in various cardiomyopathies with different mechanisms of disease and its frequency in controls suggests that it is more likely to be benign.

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