ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.50619G>A (p.Trp16873Ter)

dbSNP: rs1553696411
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498469 SCV000589825 likely pathogenic not provided 2019-03-07 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 in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge

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