ClinVar Miner

Submissions for variant NM_004628.5(XPC):c.128del (p.Pro43fs)

dbSNP: rs1260189637
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666236 SCV000790494 pathogenic Xeroderma pigmentosum, group C 2017-04-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001090470 SCV001246036 pathogenic not provided 2018-07-01 criteria provided, single submitter clinical testing
Invitae RCV001090470 SCV001400167 pathogenic not provided 2023-10-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro43Glnfs*36) 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 (no rsID available, gnomAD 0.003%). This premature translational stop signal has been observed in individuals with xeroderma pigmentosum (PMID: 10766188). This variant is also known as fs43>378stop. ClinVar contains an entry for this variant (Variation ID: 551235). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000666236 SCV004206986 pathogenic Xeroderma pigmentosum, group C 2024-01-02 criteria provided, single submitter clinical testing

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