ClinVar Miner

Submissions for variant NC_000002.11:g.(?_179425803)_(179544953_?)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 RCV003105740 SCV003793454 likely pathogenic Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-11-13 criteria provided, single submitter clinical testing This variant results in the deletion of exons 140-325 and part of exon 326 of the TTN gene. It is expected to disrupt RNA splicing and likely results in a truncated or disrupted TTN protein. This variant has not been reported in the literature in individuals affected with TTN-related conditions. This variant disrupts the I and A bands of TTN (PMID: 25589632). Truncating variants in the 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).“ 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.

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