ClinVar Miner

Submissions for variant NM_004817.4(TJP2):c.811_812CG[1] (p.Ala273fs) (rs1554660803)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Donald Williams Parsons Laboratory,Baylor College of Medicine RCV000505572 SCV000599955 pathogenic Progressive familial intrahepatic cholestasis 4 2013-11-06 no assertion criteria provided research This frameshift variant is categorized as deleterious according to ACMG guidelines (PMID:18414213). It was found once in this study homozygous in a 2-year-old male with hepatocellular carcinoma, severe cholestatic liver disease requiring transplant.

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