ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.84347T>C (p.Ile28116Thr)

gnomAD frequency: 0.00001  dbSNP: rs1468127080
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001758407 SCV001995316 uncertain significance not provided 2019-12-11 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); 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; Located in the A-band of the titin protein, where the majority of pathogenic truncating variants have been reported.
Fulgent Genetics, Fulgent Genetics RCV002488576 SCV002788704 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 2021-08-12 criteria provided, single submitter clinical testing

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