Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001851798 | SCV002132228 | pathogenic | Hereditary spastic paraplegia 2 | 2021-12-02 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available"). ClinVar contains an entry for this variant (Variation ID: 11075). This variant is also known as C>T transition at nucleotide 40. This missense change has been observed in individuals with Pelizaeus-Merzbacher disease (PMID: 2480601, 24139698). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 15 of the PLP1 protein (p.Pro15Leu). |
OMIM | RCV000011824 | SCV000032057 | pathogenic | Pelizaeus-Merzbacher disease | 1989-12-01 | no assertion criteria provided | literature only |