ClinVar Miner

Submissions for variant NM_004817.4(TJP2):c.1210G>A (p.Asp404Asn) (rs1060499649)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Genomic medicine, Geneva,University Hospital of Geneva RCV000449597 SCV000537691 likely pathogenic Progressive familial intrahepatic cholestasis 4 2016-07-12 criteria provided, single submitter clinical testing This heterozygous variant in the TJP2 gene (autosomal recessive transmission), inherited from the mother, is present in a female patient who also harbours a tandem duplication in the same gene (see below)(compound heterozygosity). This patient also has a nonsense variant in the PKD2 gene

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