ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.77779A>C (p.Ile25927Leu)

dbSNP: rs780196850
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV001509181 SCV001715753 uncertain significance not provided 2020-08-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488314 SCV002791826 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 2021-09-10 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001509181 SCV003819080 uncertain significance not provided 2019-10-14 criteria provided, single submitter clinical testing
GeneDx RCV001509181 SCV005439338 uncertain significance not provided 2024-06-17 criteria provided, single submitter clinical testing Identified in a patient with DCM in published literature (PMID: 31983221); 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: 31983221)

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