ClinVar Miner

Submissions for variant NM_004628.4(XPC):c.2251-1G>C (rs754673606)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Claritas Genomics RCV000170434 SCV000222871 pathogenic Xeroderma pigmentosum, group C 2007-10-17 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000590804 SCV000698491 pathogenic Xeroderma pigmentosum 2017-07-11 criteria provided, single submitter clinical testing Variant summary: The XPC c.2251-1G>C variant involves the alteration of a conserved intronic nucleotide. One in silico tool predicts a damaging outcome for this variant. 5/5 splice prediction tools predict a significant impact on normal splicing. Functional studies proved the exon skipping and the absence of the XPC protein associated with impaired DNA synthesis in XP patients cultured fibroblasts (Cartault_DNA_Repair_2011, Fassihi_PNAS_2016). This variant was found in 2/120678 control chromosomes at a frequency of 0.0000166, which does not exceed the estimated maximal expected allele frequency of a pathogenic XPC variant (0.0014142). This variant is reported in multiple homozygous XP patients (Cartault_DNA_Repair_2011, Fassihi_PNAS_2016). In addition, one clinical diagnostic laboratory classified this variant as pathogenic. Taken together, this variant is classified as pathogenic.
Counsyl RCV000170434 SCV000791824 pathogenic Xeroderma pigmentosum, group C 2017-05-24 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000170434 SCV000893637 pathogenic Xeroderma pigmentosum, group C 2018-10-31 criteria provided, single submitter clinical testing

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