ClinVar Miner

Submissions for variant NM_004628.5(XPC):c.2251-2A>G

dbSNP: rs1553604570
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674481 SCV000799825 likely pathogenic Xeroderma pigmentosum, group C 2018-05-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003660830 SCV004370438 pathogenic not provided 2023-11-05 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 12 of the XPC gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and 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). Disruption of this splice site has been observed in individuals with xeroderma pigmentosum (PMID: 21482201). ClinVar contains an entry for this variant (Variation ID: 558243). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

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