Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000601510 | SCV000711733 | pathogenic | Microcephalic osteodysplastic primordial dwarfism type II | 2015-10-22 | criteria provided, single submitter | clinical testing | The p.Gln2376X variant in PCNT has not been previously reported in the literatur e or in large population studies. This nonsense variant leads to a premature ter mination codon at position 2376, which is predicted to lead to a truncated or ab sent protein. Nonsense and other loss of function variants in PCNT are establish ed to be disease causing for microcephalic osteodysplastic primordial dwarfism t ype 2. In summary, this variant meets our criteria to be classified as pathogeni c for microcephalic osteodysplastic primordial dwarfism type 2 in an autosomal r ecessive manner based upon its predicted impact to the protein. |