ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.106375-2A>G (rs1553482872)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000517317 SCV000615978 likely pathogenic not provided 2016-10-05 criteria provided, single submitter clinical testing
GeneDx RCV000517317 SCV000618016 pathogenic not provided 2016-03-04 criteria provided, single submitter clinical testing The c.101452-2A>G pathogenic variant in the TTN gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This splice site variant destroys the canonical splice acceptor site in intron 307. It is predicted to cause abnormal gene splicing, either leading to an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. The c.101452-2A>G variant was not observed in approximately 5800 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.101452-2A>G as a pathogenic variant
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City RCV000985108 SCV001133079 pathogenic Limb-girdle muscular dystrophy, type 2J 2019-09-26 no assertion criteria provided clinical testing

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