Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV001310666 | SCV001500553 | pathogenic | not provided | 2023-07-01 | criteria provided, single submitter | clinical testing | XPA: PVS1, PM2, PP1 |
Invitae | RCV001310666 | SCV001581654 | pathogenic | not provided | 2020-08-14 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Lys183*) in the XPA gene. It is expected to result in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with XPA-related conditions. Loss-of-function variants in XPA are known to be pathogenic (PMID: 27607234). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV003462882 | SCV004206942 | likely pathogenic | Xeroderma pigmentosum group A | 2023-10-22 | criteria provided, single submitter | clinical testing |