Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000210945 | SCV002285644 | likely pathogenic | Spondyloenchondrodysplasia with immune dysregulation | 2023-12-30 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 44 of the ACP5 protein (p.Thr44Met). This variant is present in population databases (rs369804864, gnomAD 0.006%). This missense change has been observed in individual(s) with spondyloenchondrodysplasia (PMID: 26346816, 26951490; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 225657). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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. |
Ai |
RCV002223820 | SCV002502606 | likely pathogenic | not provided | 2022-03-22 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000210945 | SCV003822509 | uncertain significance | Spondyloenchondrodysplasia with immune dysregulation | 2021-04-12 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000210945 | SCV000267640 | pathogenic | Spondyloenchondrodysplasia with immune dysregulation | 2017-08-25 | no assertion criteria provided | literature only |