ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.76654C>T (p.Arg25552Ter) (rs545954490)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000473644 SCV000542599 likely pathogenic Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2018-10-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 25552 (p.Arg25552*) of the TTN gene. It is expected to result in an absent or disrupted protein product. This variant is found in the A-band of this gene. While this particular variant has not been reported in the literature, truncating variants in the A-band of TTN are significantly overrepresented in patients with dilated cardiomyopathy and are considered to be likely pathogenic for the disease (PMID: 25589632). For these reasons, this variant has been classified as Likely Pathogenic.
Blueprint Genetics RCV000788867 SCV000928139 likely pathogenic not provided 2018-12-27 criteria provided, single submitter clinical testing

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