ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.51037G>T (p.Glu17013Ter)

dbSNP: rs1060500500
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000471106 SCV000542756 likely pathogenic Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-08-18 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Likely Pathogenic. 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). This sequence change results in a premature translational stop signal in exon 270 of the TTN mRNA at codon 17013 (p.Glu17013*). While this is not anticipated to result in nonsense mediated decay, it is expected to create a truncated TTN protein.

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