ClinVar Miner

Submissions for variant NM_004628.4(XPC):c.2815C>A (p.Gln939Lys) (rs2228001)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Claritas Genomics RCV000170436 SCV000222873 benign not specified 2012-06-20 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000380504 SCV000441362 benign Xeroderma pigmentosum 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000331098 SCV000484037 likely benign Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000170436 SCV000920354 benign not specified 2018-08-27 criteria provided, single submitter clinical testing Variant summary: XPC c.2815C>A (p.Gln939Lys) results in a conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.64 in 275306 control chromosomes, suggesting that it is the major allele and therefore benign. The observed variant frequency is approximately 450-folds higher than the estimated maximal expected allele frequency for a pathogenic variant in XPC causing Xeroderma Pigmentosum phenotype (0.0014), strongly suggesting that the variant is benign. The variant has been found to have a slightly associated increased risk for cancer (He_2013) however the relevance of this finding to an inherited cause of Xeroderma Pigmentosum is not unlikely. A ClinVar submisson from another clinical diagnostic laboratory (evaluation after 2014) cites the variant as "likely benign." Based on the evidence outlined above, the variant was classified as benign.
PharmGKB RCV000211268 SCV000268257 drug response cisplatin response - Toxicity/ADR 2017-05-03 reviewed by expert panel curation PharmGKB Level of Evidence 1B: Annotation for a variant-drug combination where the preponderance of evidence shows an association. The association must be replicated in more than one cohort with significant p-values, and preferably will have a strong effect size.
PreventionGenetics RCV000170436 SCV000310542 benign not specified criteria provided, single submitter clinical testing

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