ClinVar Miner

Submissions for variant NC_000002.11:g.(?_179648902)_(179655378_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003105739 SCV003793453 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2022-03-10 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 results in the deletion of exons 12-15 and part of exon 16 (c.1800+57_2670delins46) of the TTN gene. It is expected to disrupt RNA splicing and likely results in a truncated or disrupted TTN protein.

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