ClinVar Miner

Submissions for variant NM_004628.4(XPC):c.463C>T (p.Arg155Ter) (rs755825264)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000587243 SCV000698492 pathogenic Xeroderma pigmentosum 2016-07-21 criteria provided, single submitter clinical testing Variant summary: The XPC c.463C>T (p.Arg155X) variant results in a premature termination codon, predicted to cause a truncated or absent XPC protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 2/120516 (1/60258), which does not exceed the estimated maximal expected allele frequency of a pathogenic XPC variant (0.0014142). Multiple publications cite the variant in affected individuals as homozygotes and compound heterozygotes. In addition, functional studies show the variant of interest to have a deleterious effect on protein function. Therefore, the variant of interest has been classified as Pathogenic.
Invitae RCV000821094 SCV000961837 pathogenic not provided 2018-08-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg155*) in the XPC gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs755825264, ExAC 0.003%). This variant has been observed in individuals affected with xeroderma pigmentosum (PMID: 16081512, 23173980, 24218596). This variant is also known as c.567C>T in the literature. ClinVar contains an entry for this variant (Variation ID: 496268). Loss-of-function variants in XPC are known to be pathogenic (PMID: 23173980, 25256075). For these reasons, this variant has been classified as Pathogenic.

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