ClinVar Miner

Submissions for variant NC_000002.11:g.(?_179480014)_(179501546_?)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 RCV003105749 SCV003793463 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-12-23 criteria provided, single submitter clinical testing This variant results in a copy number gain of the genomic region encompassing exon(s) 225-259 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 out-of-frame, and may result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals affected with TTN-related conditions. This variant spans the I and A bands of TTN (PMID: 25589632). It is unclear how this variant impacts the function of this protein. 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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