ClinVar Miner

Submissions for variant NC_000002.11:g.(?_179398234)_(179517183_?)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 RCV004582586 SCV005063202 likely pathogenic Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2022-12-30 criteria provided, single submitter clinical testing This variant disrupts the I, A, and M 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. This variant has not been reported in the literature in individuals affected with TTN-related conditions. This variant results in the deletion of exons 202-357 and part of exon 358 (c.39044-?_103108del) of the TTN gene. This deletion extends beyond the assayed region for this gene. It is expected to disrupt RNA splicing and likely results in a truncated or disrupted TTN protein.

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