ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.38919del (p.Leu12974fs)

dbSNP: rs1359574718
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001376070 SCV001572884 uncertain significance not provided 2021-04-08 criteria provided, single submitter clinical testing Frameshift variant located in the I-band region that does not affect one of the constitutive exons; studies suggest that truncating variants affecting constitutive exons throughout the TTN gene are significantly associated with DCM (Deo, 2016; Schafer et al., 2017) Observed in 1/31156 (0.0032%) alleles in large population cohorts (Lek et al., 2016) Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002488193 SCV002786844 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 2021-10-02 criteria provided, single submitter clinical testing

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