ClinVar Miner

Submissions for variant NC_000002.11:g.(?_179296824)_(179518254_?)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 RCV003105734 SCV003793448 likely pathogenic Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2022-03-15 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. 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) 202-363 of the TTN gene. This deletion extends beyond the assayed region for this gene. It is expected to result in an absent or disrupted protein product. This variant disrupts the I, A and M band(s) of TTN (PMID: 25589632). Truncating variants in A band are significantly overrepresented in patients affected with dilated cardiomyopathy (PMID: 25589632). Truncating variants in this region have also been reported in individuals affected with autosomal recessive centronuclear myopathy (PMID: 23975875). Truncating variants in the M band have been previously reported in individuals affected with autosomal recessive myopathy and muscular dystrophy (PMID: 18948003, 23975875, 24395473).

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