ClinVar Miner

Submissions for variant NM_004817.4(TJP2):c.1243del (p.Ser415fs) (rs1057518679)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000415040 SCV000328762 pathogenic Progressive familial intrahepatic cholestasis 4 2014-07-01 no assertion criteria provided clinical testing Our laboratory reported dual molecular diagnoses in HBB (NM_000518.4, c.92+6T>C) and TJP2 (NM_004817.3, c.1243delT homozygous) in one individual with reported features that include prematurity, cholestasis of the liver, mild pulmonic stenosis, chronic anemia of thalassemia, and obstructive sleep apnea. The TJP2 variant is predicted to cause a frameshift and is categorized as deleterious by ACMGG guidelines [PMID: 18414213].

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