ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.80774G>A (p.Arg26925Lys)

gnomAD frequency: 0.00002  dbSNP: rs748215561
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Total submissions: 3
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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 RCV000604866 SCV000712245 uncertain significance not specified 2016-06-16 criteria provided, single submitter clinical testing The p.Arg24357Lys variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 2/66698 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP r s748215561). Computational prediction tools and conservation analysis do not pro vide strong support for or against an impact to the protein. In summary, the cli nical significance of the p.Arg24357Lys variant is uncertain.
Fulgent Genetics, Fulgent Genetics RCV002483673 SCV002788647 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 2021-07-25 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV003480709 SCV004225807 uncertain significance not provided 2023-04-13 criteria provided, single submitter clinical testing

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