Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000223963 | SCV000281300 | likely pathogenic | not provided | 2014-11-13 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001854777 | SCV002187497 | uncertain significance | Hereditary spastic paraplegia 2 | 2023-11-07 | criteria provided, single submitter | clinical testing | This sequence change replaces histidine, which is basic and polar, with tyrosine, which is neutral and polar, at codon 130 of the PLP1 protein (p.His130Tyr). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with hereditary spastic paraplegia (PMID: 11093273, 34782662). This variant is also known as H129Y. ClinVar contains an entry for this variant (Variation ID: 235599). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |