ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.11444del (p.Lys3815fs)

dbSNP: rs1574099951
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000813300 SCV000953657 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2020-12-20 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant is located in the I band of TTN (PMID: 25589632). Truncating variants in this region have been shown to be highly prevalent in the general population and unaffected individuals (PMID: 26701604, 22335739). However, truncating variants in this region have also been reported in individuals affected with autosomal recessive centronuclear myopathy (PMID: 23975875). This variant has not been reported in the literature in individuals with TTN-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the TTN gene (p.Lys3815Argfs*17). While this is not anticipated to result in nonsense mediated decay, it is expected to create a truncated TTN protein.
AiLife Diagnostics, AiLife Diagnostics RCV002223250 SCV002501271 uncertain significance not provided 2022-02-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002478892 SCV002779762 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 2021-09-21 criteria provided, single submitter clinical testing
Center for Human Genetics, University of Leuven RCV003237353 SCV002817388 likely pathogenic Primary dilated cardiomyopathy 2022-12-31 criteria provided, single submitter clinical testing

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