ClinVar Miner

Submissions for variant NM_004817.4(TJP2):c.1056+2T>C (rs1278244243)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000579219 SCV000681216 likely pathogenic not provided 2017-12-05 criteria provided, single submitter clinical testing The c.1056+2T>C variant in the TJP2 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 donor site in intron 6. 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.1056+2T>C variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret c.1056+2T>C as a likely pathogenic variant.
Fulgent Genetics,Fulgent Genetics RCV000763622 SCV000894479 likely pathogenic Hypercholanemia, familial; Progressive familial intrahepatic cholestasis 4 2018-10-31 criteria provided, single submitter clinical testing

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