ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.104527_104528del (p.Leu34843fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004787258 SCV005401675 likely pathogenic not provided 2024-11-22 criteria provided, single submitter clinical testing Observed with an additional TTN variant on the opposite allele (in trans) in a patient with unspecified congenital heart disease; however, it is unknown if the proband had a congenital cardiomyopathy or a congenital cardiac malformation and both parents were reported as having no cardiac phenotype (PMID: 38516780); 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 M-line region of TTN in which the majority of loss of function variants have been associated with autosomal recessive titinopathies (PMID: 17444505); Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 17444505, 38516780)

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