ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.11497_11515del (p.Met3833fs)

dbSNP: rs2154319069
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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 RCV001901376 SCV002168651 pathogenic Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-10-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Met3833Cysfs*3) in the TTN gene. While this is not anticipated to result in nonsense mediated decay, it is expected to create a truncated TTN protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individuals with autosomal dominant dilated cardiomyopathy and/or cardiac disorders (PMID: 25163546, 30333491, 33019804, 33106378). This variant is also known as NM_133437:c.10984_11002del. ClinVar contains an entry for this variant (Variation ID: 1403913). This variant is located in the I band of TTN (PMID: 25589632). Truncating variants in this region have been reported in individuals affected with autosomal recessive centronuclear myopathy (PMID: 23975875, internal data). Truncating variants in this region have also been identified in individuals affected with autosomal dominant dilated cardiomyopathy and/or cardio-related conditions (PMID: 27869827, 32964742, internal data). For these reasons, this variant has been classified as Pathogenic.

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