ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.106768dup (p.His35590fs)

dbSNP: rs1687796533
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001057641 SCV001222144 likely pathogenic Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2022-05-18 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with progressive myopathy, arm/leg contractures and cardiomyopathy (Invitae). ClinVar contains an entry for this variant (Variation ID: 852925). This variant is located in the M band of TTN (PMID: 25589632). Truncating variants in this region have been previously reported in individuals affected with autosomal recessive myopathy and muscular dystrophy (PMID: 18948003, 23975875, 24395473), but have not been definitively shown to cause cardiomyopathy (PMID: 25589632). 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 is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.His35590Profs*2) in the TTN gene. While this is not anticipated to result in nonsense mediated decay, it is expected to create a truncated TTN protein.

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