ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.77062del (p.Gln25688fs)

dbSNP: rs1575716932
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008329 SCV001168097 likely pathogenic not provided 2024-08-08 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); Frameshift 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; This variant is associated with the following publications: (PMID: 22335739)

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