Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV004582570 | SCV005063186 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2023-04-25 | criteria provided, single submitter | clinical testing | 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 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. This variant has not been reported in the literature in individuals affected with TTN-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 202-204 of the TTN gene. This deletion extends beyond the assayed region for this gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. |