Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000579219 | SCV000681216 | uncertain significance | not provided | 2025-03-13 | criteria provided, single submitter | clinical testing | Canonical splice site variant predicted to result in a null allele in a gene for which loss of function is a known mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge |
Fulgent Genetics, |
RCV000763622 | SCV000894479 | likely pathogenic | Hypercholanemia, familial 1; Cholestasis, progressive familial intrahepatic, 4 | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000579219 | SCV005847631 | likely pathogenic | not provided | 2024-05-09 | criteria provided, single submitter | clinical testing | This sequence change affects a donor splice site in intron 6 of the TJP2 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in TJP2 are known to be pathogenic (PMID: 24614073, 25921221, 28039895). This variant is present in population databases (no rsID available, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with TJP2-related conditions. ClinVar contains an entry for this variant (Variation ID: 489223). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |
Prevention |
RCV003900292 | SCV004714564 | likely pathogenic | TJP2-related disorder | 2024-01-03 | no assertion criteria provided | clinical testing | The TJP2 c.1056+2T>C variant is predicted to disrupt the GT donor site and interfere with normal splicing. TO our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0087% of alleles in individuals of Latino descent in gnomAD. Variants that disrupt the consensus splice donor site in TJP2 are expected to be pathogenic. This variant is interpreted as likely pathogenic. |