ClinVar Miner

Submissions for variant NM_004628.5(XPC):c.2287del (p.Leu763fs)

dbSNP: rs1553604559
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674367 SCV000799691 pathogenic Xeroderma pigmentosum, group C 2018-04-30 criteria provided, single submitter clinical testing
Invitae RCV001855606 SCV002234367 pathogenic not provided 2023-11-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu763Cysfs*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 premature translational stop signal has been observed in individual(s) with clinical features of xeroderma pigmentosum (PMID: 20054342, 26278556). ClinVar contains an entry for this variant (Variation ID: 558141). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000674367 SCV004206985 pathogenic Xeroderma pigmentosum, group C 2023-07-20 criteria provided, single submitter clinical testing

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