ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.63379C>T (p.Arg21127Cys)

gnomAD frequency: 0.00001  dbSNP: rs751590336
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001170816 SCV001333434 uncertain significance Cardiomyopathy 2018-07-06 criteria provided, single submitter clinical testing
GeneDx RCV004794494 SCV005414879 uncertain significance not provided 2024-05-17 criteria provided, single submitter clinical testing Reported in an individual from a large DCM cohort; however, patient-specific clinical details were not provided (PMID: 32880476); Not observed at significant frequency in large population cohorts (gnomAD); Missense variant in a gene in which most reported pathogenic variants are truncating/loss of function; This variant is associated with the following publications: (PMID: 32880476)

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