ClinVar Miner

Submissions for variant NM_004628.5(XPC):c.1306del (p.Ser436fs)

dbSNP: rs1253035928
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001934391 SCV002210680 pathogenic not provided 2022-09-27 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with XPC-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Ser436Valfs*90) 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). ClinVar contains an entry for this variant (Variation ID: 1438933). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV004571666 SCV005055914 likely pathogenic Xeroderma pigmentosum, group C 2023-12-19 criteria provided, single submitter clinical testing

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