Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000521481 | SCV000620225 | likely pathogenic | not provided | 2024-10-21 | criteria provided, single submitter | clinical testing | Canonical splice site variant predicted to result in an in-frame loss of the adjacent exon in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 24706940, 35718083) |
Institute of Human Genetics, |
RCV001844185 | SCV005368274 | likely pathogenic | Spondylometaphyseal dysplasia, Sedaghatian type | 2024-06-17 | criteria provided, single submitter | clinical testing | Criteria applied: PVS1_STR,PM2,PM3 |
Genomic Medicine Center of Excellence, |
RCV001844185 | SCV001870477 | pathogenic | Spondylometaphyseal dysplasia, Sedaghatian type | 2021-04-29 | no assertion criteria provided | research | |
Royal Medical Services, |
RCV001844185 | SCV005061399 | uncertain significance | Spondylometaphyseal dysplasia, Sedaghatian type | no assertion criteria provided | clinical testing | The GPX4 variant c.523del p.(Val175Phefs*?) creates a shift in the reading frame starting at codon 175 with unknown location of the terminating stop codon. According to HGMD Professional 2020.3, loss of function is not known disease mechanism for this gene. To date, only one loss of function variant has been described. In gnomAD, the GPX4 gene seems to be tolerant for loss of function (pLI = 0). This variant has not yet been described in the literature in individuals with GPX4-related disorder. ClinVar lists this variant as uncertain (clinical testing, Variation ID: 451510). Thus, it is classified as variant of uncertain significance (class 3) according to the recommendations of CENTOGENE and ACMG. |