ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.98504_98505del (p.Arg32835fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004719578 SCV005325970 likely pathogenic not provided 2023-11-29 criteria provided, single submitter clinical testing Identified in a patient with DCM in published literature (PMID: 27532257); 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; 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); This variant is associated with the following publications: (PMID: 22335739, 27532257)

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