Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Pediatric Services, |
RCV000186504 | SCV000222739 | uncertain significance | Ehlers-Danlos syndrome due to tenascin-X deficiency | 2015-01-01 | criteria provided, single submitter | research | |
Gene |
RCV001731502 | SCV001983207 | uncertain significance | not provided | 2021-04-16 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Identified previously in conjunction with a fusion event involving TNXB and TNXA in individuals with a phenotype of congenital adrenal hyperplasia and hypermobile Ehlers-Danlos syndrome (Morissette et al., 2015; Demirdas et al., 2017); This variant is associated with the following publications: (PMID: 26075496, 31141158, 32572181, 31229653, 27582382) |
Prevention |
RCV003907533 | SCV004723342 | uncertain significance | TNXB-related disorder | 2023-11-27 | criteria provided, single submitter | clinical testing | The TNXB c.12174C>G variant is predicted to result in the amino acid substitution p.Cys4058Trp. Likely originated from the pseudogene TNXA, this variant can be presented in TNXB by itself in exon 40 or with the pseudogene-derived 120bp deletion across exon 35 and intron 35 due to a gene rearrangement event (unequal crossover or gene conversion). Located closer to the CYP21A2 gene (which is 3’ to 3’ with TNXB) in the RCCX locus, this variant alone (i.e. not with the 120bp deletion) can represent a different chimera TNXA/TNXB gene (Morissette et al. 2015. PubMed ID: 26075496; Chen et al. 2016. PubMed ID: 27297501; Miller and Merke. 2018. PubMed ID: 29734195). These studies suggested that this variant itself could be pathogenic. At this time, however, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. This variant is reported in 0.0055% of alleles in individuals of European descent in the large population variant database gnomAD (https://gnomad.broadinstitute.org/variant/6-32010262-G-C). This variant falls within a highly paralogous region. Allele frequency data should be interpreted with caution. |