ClinVar Miner

Submissions for variant NM_004628.5(XPC):c.779+1G>A

dbSNP: rs975121308
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671425 SCV000796400 likely pathogenic Xeroderma pigmentosum, group C 2017-12-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003558514 SCV004292211 likely pathogenic not provided 2022-11-24 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Studies have shown that disruption of this splice site results in loss of the splicing donor site and introduces a premature termination codon (PMID: 23984341). The resulting mRNA is expected to undergo nonsense-mediated decay. ClinVar contains an entry for this variant (Variation ID: 555583). Disruption of this splice site has been observed in individual(s) with Xeroderma pigmentosum (PMID: 23984341). This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 6 of the XPC gene. RNA analysis indicates that disruption of this splice site induces altered splicing and may result in an absent or disrupted protein product.
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV000671425 SCV004805562 pathogenic Xeroderma pigmentosum, group C 2024-03-25 criteria provided, single submitter research

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