ClinVar Miner

Submissions for variant NC_000002.11:g.(?_179392363)_(179408795_?)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 RCV004582594 SCV005063210 pathogenic Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-07-12 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the A and M band(s) of TTN (PMID: 25589632). Copy number variants in TTN have been previously reported in individuals affected with neuromuscular disorders (PMID: 29792937, 30238059). A similar copy number variant has been observed in individual(s) with dilated cardiomyopathy and skeletal myopathy (PMID: 31489791). In at least one individual the variant was observed to be de novo. This variant results in the deletion of exons 347-361 and parts of exons 346 and 362 (c.96076_107490del) of the TTN gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame.

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