ClinVar Miner

Submissions for variant NM_000123.4(ERCC5):c.323del (p.Lys108fs)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003389364 SCV004101459 likely pathogenic Xeroderma pigmentosum, group G criteria provided, single submitter clinical testing The frameshift variant c.323del (p.Lys108SerfsTer3) in ERCC5 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Lys108SerfsTer3 variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. Null variant (frame-shift), in gene ERCC5 for which loss-of-function is a known mechanism of disease. This variant causes a frameshift starting with codon Lysine 108, changes this amino acid to Serine residue, and creates a premature Stop codon at position 3 of the new reading frame, denoted p.Lys108SerfsTer3. For these reasons, this variant has been classified as Likely Pathogenic. The above variant is present in the spouse.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.