ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.40608del (p.Lys13536fs)

dbSNP: rs1284446305
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Genomics Program, Sidra Medicine RCV001293217 SCV001434215 likely pathogenic Primary dilated cardiomyopathy criteria provided, single submitter research
GeneDx RCV003227947 SCV003924968 likely pathogenic not provided 2022-11-15 criteria provided, single submitter clinical testing Reported in a patient with DCM in the published literature (Al-Shafai et al., 2021); Not observed at significant frequency in large population cohorts (gnomAD); Located in a region of TTN within the I-band in which the majority of loss of function variants are significantly associated with autosomal dominant titinopathies (Deo et al., 2016; Schafer et al., 2017); This variant is associated with the following publications: (PMID: 27625338, 27869827, 34137518)

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