ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.66804_66807del (p.Lys22269fs)

dbSNP: rs1064796186
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000485601 SCV000572665 pathogenic not provided 2024-07-09 criteria provided, single submitter clinical testing Has been reported as a likely pathogenic variant in association with DCM (PMID: 32160020); 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; Located in the A-band region of TTN in which the majority of loss of function variants have been associated with autosomal dominant titinopathies (PMID: 22335739); Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 32160020, 22335739)

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