ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.66959G>A (p.Arg22320His)

gnomAD frequency: 0.00005  dbSNP: rs771424865
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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 RCV000219099 SCV000272730 uncertain significance not specified 2015-04-04 criteria provided, single submitter clinical testing The p.Arg19752His variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 2/6570 Finnish chromosomes and in 2/11522 Latino chromosomes by the Exome Aggregation Consortium Sequencing Pro ject (http://exac.broadinstitute.org). Computational prediction tools and conser vation analyses do not provide strong support for or against an impact to the pr otein. In summary, the clinical significance of the p.Arg19752His variant is unc ertain.

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