ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.1537-2A>G

gnomAD frequency: 0.00001  dbSNP: rs749182164
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002003279 SCV002268857 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-07-13 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 Z band of TTN (PMID: 25589632). Variants in this region may be clinically relevant, but have not been definitively shown to cause cardiomyopathy or neuromuscular disease (PMID: 27493940, 32778822). This variant has not been reported in the literature in individuals affected with TTN-related conditions. This variant is present in population databases (rs749182164, ExAC 0.01%). This sequence change affects an acceptor splice site in intron 9 of the TTN gene. It is expected to disrupt RNA splicing and likely results in a truncated or disrupted TTN protein.
Fulgent Genetics, Fulgent Genetics RCV002497959 SCV002775897 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 2021-07-28 criteria provided, single submitter clinical testing

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