ClinVar Miner

Submissions for variant NM_004628.5(XPC):c.1686del (p.Thr563fs)

dbSNP: rs1553605655
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674806 SCV000800205 likely pathogenic Xeroderma pigmentosum, group C 2018-05-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003574804 SCV004334126 pathogenic not provided 2023-10-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr563Profs*4) in the XPC gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in XPC are known to be pathogenic (PMID: 23173980, 25256075). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with XPC-related conditions. ClinVar contains an entry for this variant (Variation ID: 558522). For these reasons, this variant has been classified as Pathogenic.

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