ClinVar Miner

Submissions for variant NM_004628.5(XPC):c.2050_2051del (p.Leu684fs)

dbSNP: rs765641981
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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 RCV001385417 SCV001585254 pathogenic not provided 2020-04-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu684Alafs*28) in the XPC gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in XPC are known to be pathogenic (PMID: 23173980, 25256075). This variant has not been reported in the literature in individuals with XPC-related conditions. This variant is present in population databases (rs765641981, ExAC 0.01%).
Baylor Genetics RCV003463006 SCV004207016 likely pathogenic Xeroderma pigmentosum, group C 2022-09-03 criteria provided, single submitter clinical testing

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