ClinVar Miner

Submissions for variant NC_000002.11:g.(?_179623691)_(179639949_?)dup

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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 RCV004582577 SCV005063193 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-06-29 criteria provided, single submitter clinical testing This variant disrupts the I band(s) 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. This variant has not been reported in the literature in individuals affected with TTN-related conditions. This variant results in a copy number gain of the genomic region encompassing exon(s) 29-44 of the TTN gene. While the exact position of this variant cannot be determined from the data, sub-genic copy number gains are generally in tandem (PMID: 25640679). This variant is predicted to be in-frame, and likely preserves the integrity of the reading frame.

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