ClinVar Miner

Submissions for variant NC_000002.11:g.(?_179563550)_(179565950_?)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 RCV003105728 SCV003793442 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2022-05-06 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 111-112 of the TTN gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. This variant has not been reported in the literature in individuals affected with TTN-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant disrupts the I band of TTN (PMID: 25589632). Copy number variants in TTN have been previously reported in individuals affected with neuromuscular disorders (PMID: 29792937, 30238059), but the functional significance of this variant is currently unknown. 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.

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