ClinVar Miner

Submissions for variant NM_004628.5(XPC):c.103+1G>A

dbSNP: rs1423398589
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668920 SCV000793596 likely pathogenic Xeroderma pigmentosum, group C 2017-08-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001868226 SCV002151365 pathogenic not provided 2023-06-23 criteria provided, single submitter clinical testing This variant is also known as IVS1+1G>A. Disruption of this splice site has been observed in individual(s) with xeroderma pigmentosum (PMID: 28669926). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 1 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). ClinVar contains an entry for this variant (Variation ID: 553460). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site.
Baylor Genetics RCV000668920 SCV004206971 pathogenic Xeroderma pigmentosum, group C 2023-09-16 criteria provided, single submitter clinical testing

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