ClinVar Miner

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

gnomAD frequency: 0.00001  dbSNP: rs1060499649
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Total submissions: 2
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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 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
PreventionGenetics, part of Exact Sciences 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.

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