ClinVar Miner

Submissions for variant NM_004628.5(XPC):c.299+1G>A

dbSNP: rs1553607744
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666590 SCV000790904 likely pathogenic Xeroderma pigmentosum, group C 2017-05-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000805953 SCV000945929 likely pathogenic not provided 2024-01-30 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 2 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 individual(s) with xeroderma pigmentosum (PMID: 27607234). ClinVar contains an entry for this variant (Variation ID: 551510). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
Baylor Genetics RCV000666590 SCV004207009 likely pathogenic Xeroderma pigmentosum, group C 2023-02-24 criteria provided, single submitter clinical testing

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