ClinVar Miner

Submissions for variant NM_004628.5(XPC):c.37G>C (p.Gly13Arg)

gnomAD frequency: 0.00057  dbSNP: rs201273381
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000764470 SCV000441402 uncertain significance Xeroderma pigmentosum, group C 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Fulgent Genetics, Fulgent Genetics RCV000764470 SCV000895537 uncertain significance Xeroderma pigmentosum, group C 2018-10-31 criteria provided, single submitter clinical testing
Baylor Genetics RCV000764470 SCV001530179 uncertain significance Xeroderma pigmentosum, group C 2018-02-14 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV001555299 SCV001776691 uncertain significance not provided 2021-04-02 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Identified in healthy individuals undergoing whole genome sequencing (Bodian 2014); This variant is associated with the following publications: (PMID: 24728327)
Sema4, Sema4 RCV002258803 SCV002537515 uncertain significance Xeroderma pigmentosum 2021-09-16 criteria provided, single submitter curation
Mayo Clinic Laboratories, Mayo Clinic RCV001555299 SCV002542031 uncertain significance not provided 2021-10-25 criteria provided, single submitter clinical testing
ITMI RCV000122324 SCV000086554 not provided not specified 2013-09-19 no assertion provided reference population

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