ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.75546C>A (p.Tyr25182Ter)

dbSNP: rs1553603152
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV000515731 SCV000611778 likely pathogenic Dilated cardiomyopathy 1G 2017-08-09 criteria provided, single submitter clinical testing
Invitae RCV002527445 SCV002963107 pathogenic Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-08-10 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individuals with dilated cardiomyopathy (PMID: 31737537, 32659924; Invitae). For these reasons, this variant has been classified as Pathogenic. This variant is located in the A band of TTN (PMID: 25589632). Truncating variants in this region 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). ClinVar contains an entry for this variant (Variation ID: 446426). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr25182*) in the TTN gene. While this is not anticipated to result in nonsense mediated decay, it is expected to create a truncated TTN protein.
Institute of Human Genetics, University of Wuerzburg RCV000850282 SCV000992457 pathogenic Primary dilated cardiomyopathy no assertion criteria provided clinical testing

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