ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.69821G>A (p.Gly23274Asp) (rs201043950)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000251867 SCV000318261 uncertain significance Cardiovascular phenotype 2013-02-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000624790 SCV000742433 uncertain significance Inborn genetic diseases 2017-04-20 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: NEGATIVE - No Relevant Alterations Detected (Step 2)
Athena Diagnostics Inc RCV000714083 SCV000844750 benign not provided 2018-08-13 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000714083 SCV000333328 uncertain significance not provided 2015-07-21 criteria provided, single submitter clinical testing
GeneDx RCV000040547 SCV000237475 likely benign not specified 2017-10-30 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.
Invitae RCV000232415 SCV000286806 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-12-27 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040547 SCV000064238 uncertain significance not specified 2014-09-25 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Gly20706Asp var iant in TTN has been identified by our laboratory in 1 Caucasian adult with DCM and LBBB and 1 Caucasian adult with ARVC (Pugh 2014; LMM unpublished data). In a ddition, this variant has been identified in 0.2% (19/8258) of European American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu /EVS/; dbSNP rs201043950). Computational prediction tools and conservation analy sis do not provide strong support for or against an impact to the protein. In su mmary, while the clinical significance of the Gly20706Asp variant is uncertain, its frequency suggests that it is more likely to be benign.

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