Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center of Genomic medicine, |
RCV000449597 | SCV000537691 | likely pathogenic | Cholestasis, progressive familial intrahepatic, 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 |
Prevention |
RCV003422418 | SCV004118200 | likely pathogenic | TJP2-related condition | 2023-08-14 | criteria provided, single submitter | clinical testing | The TJP2 c.1210G>A variant is predicted to result in the amino acid substitution p.Asp404Asn. This variant is predicted to weaken the canonical splice donor splice site based on available splicing prediction programs (Alamut Visual Plus v1.6.1). However, such computer prediction programs are imperfect. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0018% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/9-71841091-G-A). This variant is interpreted as likely pathogenic. |