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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