ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.63801del (p.Pro21269fs)

dbSNP: rs1553636843
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000547963 SCV000642450 likely pathogenic Dilated cardiomyopathy 1G 2017-06-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro21269Leufs*5) in the TTN gene. It is expected to result in a disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with a TTN-related disease. 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.

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