ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.51244dup (p.Tyr17082fs)

dbSNP: rs1576402791
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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 RCV000801330 SCV000941104 pathogenic Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2018-09-19 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the TTN gene (p.Tyr17082Leufs*20). While this is not anticipated to result in nonsense mediated decay, it is expected to create a truncated TTN protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be de novo in an individual affected with dilated cardiomyopathy (Invitae). This variant is located in the A band of TTN (PMID: 25589632). Truncating variants in this region are significantly overrepresented in patients affected with dilated cardiomyopathy (PMID: 25589632). Truncating variants in this region have also been reported in individuals affected with autosomal recessive centronuclear myopathy (PMID: 23975875). For these reasons, this variant has been classified as Pathogenic.

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