Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV001560835 | SCV001783321 | pathogenic | not provided | 2023-12-19 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 34758253, 27535533, 27133561) |
| Labcorp Genetics |
RCV001542569 | SCV002268756 | likely pathogenic | Pierpont syndrome | 2022-12-06 | criteria provided, single submitter | clinical testing | This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 245 of the TBL1XR1 protein (p.Tyr245Cys). This variant is not present in population databases (gnomAD no frequency). 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). ClinVar contains an entry for this variant (Variation ID: 225873). This missense change has been observed in individual(s) with clinical features of TBL1XR1-related conditions (PMID: 27133561; Invitae). In at least one individual the variant was observed to be de novo. |
| OMIM | RCV000211092 | SCV000268060 | pathogenic | Intellectual disability, autosomal dominant 41 | 2022-07-19 | no assertion criteria provided | literature only | |
| Genomics England Pilot Project, |
RCV001542569 | SCV001760112 | likely pathogenic | Pierpont syndrome | no assertion criteria provided | clinical testing |