Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV000191119 | SCV000245525 | pathogenic | Pelizaeus-Merzbacher disease | 2014-09-23 | criteria provided, single submitter | clinical testing | This variant has been previously reported as disease-causing and was found once in our laboratory maternally inherited in a 23-year-old male with intellectual disability, hearing loss, vision loss, hypertonicity/spasticity, joint contractures, similarly affected brother (not tested), mother with neuropathy |
Invitae | RCV001857679 | SCV002246703 | pathogenic | Hereditary spastic paraplegia 2 | 2021-08-04 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 209183). Disruption of the initiator codon has been observed in individuals with clinical features of PLP1-related conditions (PMID: 8786077, 10417279, 12910435, 22343157). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (ExAC no frequency). This sequence change affects the initiator methionine of the PLP1 mRNA. The next in-frame methionine is located at codon 206. |