ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.80146A>T (p.Lys26716Ter)

dbSNP: rs902372912
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001787633 SCV002031127 likely pathogenic not provided 2021-11-29 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge; Located in the A-band region of titin, where the majority of truncating pathogenic variants associated with DCM have been reported (PMID: 22335739); This variant is associated with the following publications: (PMID: 23975875)

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