ClinVar Miner

Submissions for variant NM_004628.5(XPC):c.739C>T (p.Arg247Ter)

gnomAD frequency: 0.00001  dbSNP: rs764321665
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672294 SCV000797390 pathogenic Xeroderma pigmentosum, group C 2018-02-05 criteria provided, single submitter clinical testing
Invitae RCV001048861 SCV001212886 pathogenic not provided 2023-12-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg247*) 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 present in population databases (rs764321665, gnomAD 0.0008%). This premature translational stop signal has been observed in individual(s) with xeroderma pigmentosum (PMID: 23173980). This variant is also known as c.843C>T. ClinVar contains an entry for this variant (Variation ID: 556301). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000672294 SCV004207013 pathogenic Xeroderma pigmentosum, group C 2022-10-08 criteria provided, single submitter clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV000672294 SCV005016546 pathogenic Xeroderma pigmentosum, group C 2024-03-14 criteria provided, single submitter clinical testing

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