Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000734731 | SCV000862895 | pathogenic | not provided | 2018-08-13 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003892676 | SCV004709918 | likely pathogenic | TJP2-related condition | 2024-02-16 | criteria provided, single submitter | clinical testing | The TJP2 c.2509C>T variant is predicted to result in premature protein termination (p.Arg837*). This variant has been reported in the homozygous state in an individual presenting with progressive familial intrahepatic cholestasis with a concomitant cytomegalovirus infection (Swed-Tobia et al. 2021. PubMed ID: 34023521). This variant is reported in 0.00088% of alleles in individuals of European (Non-Finnish) descent in gnomAD. Nonsense variants in TJP2 are expected to be pathogenic. This variant is interpreted as likely pathogenic. |