ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.73340G>A (p.Arg24447Lys)

gnomAD frequency: 0.00002  dbSNP: rs377190830
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000219461 SCV000272750 uncertain significance not specified 2015-04-07 criteria provided, single submitter clinical testing The p.Arg21879Lys variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 1/3868 African American chromos omes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; d bSNP rs377190830). Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p.Arg21879Lys variant is uncertain.

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