Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| SIB Swiss Institute of Bioinformatics | RCV000790870 | SCV000930093 | pathogenic | Snijders Blok-Campeau syndrome | 2019-02-19 | criteria provided, single submitter | curation | This variant is interpreted as a Pathogenic for Snijders Blok-Campeau syndrome, autosomal dominant. The following ACMG Tag(s) were applied: PM2 : Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. PM6-Strong :PM6 upgraded in strength to Strong due to 2 independent de novo occurrences (PMID:30397230). PM1-supporting : PM1 downgraded in strength to Supporting. PP2 : Missense variant in a gene that has a low rate of benign missense variation and in which missense variants are a common mechanism of disease. PP3 :Multiple lines of computational evidence support a deleterious effect on the gene or gene product. PM5 : Novel missense change at an amino acid residue where a different missense change determined to be pathogenic has been seen before (PMID:30397230). |
| Gene |
RCV001843537 | SCV002102677 | pathogenic | not provided | 2023-01-30 | 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; In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; This variant is associated with the following publications: (PMID: 30397230) |
| 3billion | RCV000790870 | SCV004013806 | pathogenic | Snijders Blok-Campeau syndrome | criteria provided, single submitter | clinical testing | The variant is not observed in the gnomAD v2.1.1 dataset. Missense changes are a common disease-causing mechanism. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.78; 3Cnet: 0.93). Same nucleotide change resulting in same amino acid change has been previously reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV000549733 / PMID: 30397230). The variant has been previously reported as de novo in a similarly affected individual (PMID: 30397230). A different missense change at the same codon (p.Arg985Trp) has been reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV000520977). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline. | |
| CHU Sainte- |
RCV000714489 | SCV000787635 | likely pathogenic | Intellectual disability | 2018-05-03 | no assertion criteria provided | research |