ClinVar Miner

Submissions for variant NM_004628.5(XPC):c.2351G>A (p.Arg784His)

gnomAD frequency: 0.00001  dbSNP: rs753463306
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001144437 SCV001305034 uncertain significance Xeroderma pigmentosum, group C 2018-01-13 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.
Ambry Genetics RCV003372997 SCV004063988 uncertain significance Inborn genetic diseases 2023-08-19 criteria provided, single submitter clinical testing The c.2351G>A (p.R784H) alteration is located in exon 13 (coding exon 13) of the XPC gene. This alteration results from a G to A substitution at nucleotide position 2351, causing the arginine (R) at amino acid position 784 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV003442213 SCV004168423 uncertain significance not provided 2023-04-03 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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