ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.47767G>A (p.Gly15923Arg) (rs371943746)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000618664 SCV000737052 uncertain significance Cardiovascular phenotype 2015-07-08 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,In silico models in agreement (deleterious) and/or completely conserved position in appropriate species
Ambry Genetics RCV000623199 SCV000741112 uncertain significance Inborn genetic diseases 2018-01-04 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: UNCERTAIN: Alteration(s) of Uncertain Clinical Significance Detected
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725815 SCV000339573 uncertain significance not provided 2016-02-23 criteria provided, single submitter clinical testing
GeneDx RCV000155832 SCV000237220 likely benign not specified 2017-05-08 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 RCV000471687 SCV000542782 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2018-01-05 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000155832 SCV000205543 uncertain significance not specified 2014-10-06 criteria provided, single submitter clinical testing The Gly13355Arg variant in TTN has not been previously reported in individuals w ith cardiomyopathy, but has been identified in 0.1% (4/3602) of African American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu /EVS/; dbSNP rs371943746). Computational prediction tools and conservation analy sis suggest that the Gly13355Arg variant may impact the protein, though this inf ormation is not predictive enough to determine pathogenicity. In summary, the cl inical significance of the Gly13355Arg variant is uncertain.

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