ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.100942_100944delinsT (p.Arg33648fs)

dbSNP: rs1559050685
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000687567 SCV000815142 likely pathogenic Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2018-01-30 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the TTN gene (p.Arg33648Phefs*24). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 2,294 amino acids of the TTN protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with TTN-related disease. This variant is found in the M-band of this gene. While this particular variant has not been reported in the literature, truncating variants in the M-band of TTN previously reported in patients affected with various forms of autosomal recessive myopathy and muscular dystrophy (PMID: 18948003, 23975875, 24395473). For these reasons, this variant has been classified as Likely Pathogenic..

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