Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Shanghai First Maternity and Infant Hospital, |
RCV001007563 | SCV001160664 | likely pathogenic | Pelizaeus-Merzbacher disease | 2020-02-10 | criteria provided, single submitter | clinical testing | The variant is absent in gnomAD and identified as de novo in a Pelizaeus-Merzbacher disease (PMD) patient in our laboratory. It has been reported twice in Chinese patients with PMD and reported as de novo (unknown paternity confirmation) (PMID:25491635,29451896). Phenotype of the patients consistent with gene but not highly specific. Functional analysis in cell lines suggested potential effect of this variant on protein localization (PMID: 25491635). Alternative variant p.Phe237Ser has been reported (PMID:8956049). Multiple lines of computational evidence support a deleterious effect on the gene /gene product (REVEL = 0.878). |