ClinVar Miner

Submissions for variant NM_004628.5(XPC):c.515dup (p.Ala173fs)

dbSNP: rs1553607144
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669213 SCV000793944 likely pathogenic Xeroderma pigmentosum, group C 2017-09-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003708548 SCV004484992 pathogenic not provided 2022-12-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 553705). This variant has not been reported in the literature in individuals affected with XPC-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ala173Glyfs*8) 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).

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