ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.86675G>A (p.Trp28892Ter)

dbSNP: rs745896785
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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 RCV001379063 SCV001576792 likely pathogenic Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-01-25 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 creates a premature translational stop signal at codon 28892 (p.Trp28892*) of the TTN gene. It is expected to result in an absent or disrupted protein product.

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