ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.75155G>A (p.Arg25052His)

gnomAD frequency: 0.00001  dbSNP: rs542720402
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000723873 SCV000203690 uncertain significance not provided 2014-04-17 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000217341 SCV000272758 uncertain significance not specified 2015-07-02 criteria provided, single submitter clinical testing The p.Arg22484His variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 2/8606 East Asian chromosomes b y the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs542720402). Computational prediction tools and conservation analysis do not pr ovide strong support for or against an impact to the protein. In summary, the cl inical significance of the p.Arg22484His variant is uncertain.
Invitae RCV000643883 SCV000765570 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-12-05 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000723873 SCV003820268 uncertain significance not provided 2021-12-16 criteria provided, single submitter clinical testing

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