Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV002510287 | SCV002819315 | likely pathogenic | Xeroderma pigmentosum | 2022-12-07 | criteria provided, single submitter | clinical testing | Variant summary: The variant identified by MLPA or other technology involves the deletion of exons 4-5 in the POLH gene. A presumed nomenclature of c.(272+1_273-1)_(660+1_661-1)del has been designated for the purposes of this classification. Although exact breakpoints of this deletion are not known, it is expected to result in a frameshift in the POLH gene, a known mechanism of disease. The variant was absent in 21668 control chromosomes (gnomAD Structural Variants dataset). To our knowledge, no occurrence of c.(272+1_273-1)_(660+1_661-1)del in individuals affected with Xeroderma Pigmentosum and no experimental evidence demonstrating its impact on protein function have been reported. Deletion of exon 5, which is also expected to cause a frameshift in the POLH gene, has been catagorized as disease causing in HGMD (accession: CG024995). No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic. |