ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.63794-1G>A

dbSNP: rs2049262622
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001219309 SCV001391242 likely pathogenic Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2019-07-30 criteria provided, single submitter clinical testing 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 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). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has been observed in an individual affected with dilated cardiomyopathy (PMID: 29540472). This variant is not present in population databases (ExAC no frequency). This sequence change affects an acceptor splice site in intron 306 of the TTN gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001528909 SCV001741460 likely pathogenic not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001528909 SCV001928954 likely pathogenic not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001528909 SCV001959502 likely pathogenic not provided no assertion criteria provided clinical testing

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