Total submissions: 4
| 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, |
RCV000170434 | SCV000893637 | pathogenic | Xeroderma pigmentosum, group C | 2018-10-31 | criteria provided, single submitter | clinical testing |