ClinVar Miner

Submissions for variant NM_000380.4(XPA):c.545_546dup (p.Lys183Ter)

gnomAD frequency: 0.00001  dbSNP: rs757098056
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen 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

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