Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000171372 | SCV002008975 | uncertain significance | not provided | 2020-04-08 | criteria provided, single submitter | clinical testing | Nonsense variant in the C-terminus predicted to result in protein truncation, as the last 203 amino acids are lost, and other loss-of-function variants have been reported downstream in the Human Gene Mutation Database (Stenson et al., 2014); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 27124789) |
| Centogene AG - |
RCV001808444 | SCV002059797 | likely pathogenic | 3MC syndrome 1 | 2018-09-14 | criteria provided, single submitter | clinical testing | |
| Genomic Medicine Center of Excellence, |
RCV001808444 | SCV004801267 | likely pathogenic | 3MC syndrome 1 | 2024-03-14 | criteria provided, single submitter | research | |
| Neuberg Centre For Genomic Medicine, |
RCV001808444 | SCV005439052 | likely pathogenic | 3MC syndrome 1 | criteria provided, single submitter | clinical testing | The stop gained variant c.1576C>T p.Arg526Ter in the MASP1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is reported with the allele frequency 0.004% in the gnomAD Exomes. It has been submitted to ClinVar as Likely Pathogenic/ Uncertain significance. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants has been previously reported to be disease-causing Degn et al., 2012. For these reasons, this variant has been classified as Likely Pathogenic. In the absence of another reportable variant, the molecular diagnosis is not confirmed. | |
| Genomic Medicine Center of Excellence, |
RCV000171372 | SCV000221569 | likely pathogenic | not provided | flagged submission | research |