ClinVar Miner

Submissions for variant NC_000002.11:g.(?_179549960)_(179550345_?)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 RCV001917857 SCV002170683 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-07-29 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 128-129 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. This variant is located in 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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