Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000255335 | SCV000321577 | pathogenic | not provided | 2021-12-22 | criteria provided, single submitter | clinical testing | Reported in the published literature in a male with MEND syndrome inherited from a mother with mild cutaneous features, and in a fetus with brain abnormalities inherited from a mother with unknown affection status (de Almeida et al., 2017; Li et al., 2020); Not observed at significant frequency in large population cohorts (Lek et al., 2016); 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: 32386258, 26075358, 27276700, 28730607) |
| DASA | RCV001824133 | SCV002073755 | likely pathogenic | MEND syndrome | 2022-02-05 | criteria provided, single submitter | clinical testing | The c.439C>T;p.(Arg147Cys) missense variant has been observed in affected individual(s) and ClinVar contains an entry for this variant (ClinVar ID: 265110) - PS4_supporting. The variant is located in a mutational hot spot and/or critical and well-established functional domain (EBP) - PM1. This variant is not present in population databases (rs886039345; gnomAD; ABraOM no frequency - http://abraom.ib.usp.br/) - PM2. Pathogenic missense variant in this residue have been reported (ClinVar ID: 11492; c.440G>A;p.(Arg147His)) - PM5. Multiple lines of computational evidence support a deleterious effect on the gene or gene product - PP3. Patient’s phenotype is highly specific for a disease with a single genetic etiology - PP4. In summary, the currently available evidence indicates that the variant is likely pathogenic. |