ClinVar Miner

Submissions for variant NM_004628.5(XPC):c.1289_1293del (p.Ser429_Tyr430insTer)

dbSNP: rs1553605813
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674478 SCV000799821 likely pathogenic Xeroderma pigmentosum, group C 2018-05-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001381047 SCV001579299 pathogenic not provided 2021-08-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr430*) 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). This variant is not present in population databases (ExAC no frequency). A different variant (c.1290_1295delTAAAGA) giving rise to the same protein effect has been determined to be pathogenic (PMID: 16081512). This suggests that this variant is also likely to be causative of disease. ClinVar contains an entry for this variant (Variation ID: 558241). For these reasons, this variant has been classified as Pathogenic.

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