Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000490008 | SCV000577159 | pathogenic | not provided | 2018-01-03 | criteria provided, single submitter | clinical testing | The c.-23_8dup31 pathogenic variant in the MPZ gene causes a frameshift starting with codon Alanine 5, changes this amino acid to a Proline residue and creates a premature Stop codon at position 62 of the new reading frame, denoted p.Ala5ProfsX62. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.-23_8dup31 variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). |