ClinVar Miner

Submissions for variant NM_004628.5(XPC):c.877C>T (p.Arg293Ter)

gnomAD frequency: 0.00005  dbSNP: rs373519125
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670127 SCV000794944 pathogenic Xeroderma pigmentosum, group C 2017-10-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002531245 SCV003525114 pathogenic not provided 2023-12-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg293*) 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 (rs373519125, gnomAD 0.02%). This premature translational stop signal has been observed in individual(s) with xeroderma pigmentosum (PMID: 26884178). ClinVar contains an entry for this variant (Variation ID: 554485). For these reasons, this variant has been classified as Pathogenic.
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand RCV003403557 SCV004123088 pathogenic Xeroderma pigmentosum 2023-07-01 criteria provided, single submitter research
Baylor Genetics RCV000670127 SCV004206976 pathogenic Xeroderma pigmentosum, group C 2024-02-20 criteria provided, single submitter clinical testing

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