ClinVar Miner

Submissions for variant NM_004817.4(TJP2):c.2509C>T (p.Arg837Ter)

dbSNP: rs746830415
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000734731 SCV000862895 pathogenic not provided 2018-08-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences 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.

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