ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.20426T>C (p.Ile6809Thr)

gnomAD frequency: 0.00004  dbSNP: rs879197315
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000593159 SCV000706071 uncertain significance not provided 2017-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506420 SCV002816219 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 2021-09-20 criteria provided, single submitter clinical testing
GeneDx RCV000593159 SCV005392376 uncertain significance not provided 2024-04-30 criteria provided, single submitter clinical testing 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; Has not been previously published as pathogenic or benign to our knowledge

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