ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.22del (p.His8fs)

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
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology RCV003128559 SCV003804954 pathogenic DE SANCTIS-CACCHIONE SYNDROME; Cerebrooculofacioskeletal syndrome 1; Cockayne syndrome type 2 2023-02-24 criteria provided, single submitter clinical testing The c.22delC variant is not present in publicly available population databases like 1000 Genomes, ExAC, EVS, Indian Exome Database or our in-house exome database. The variant has neither been published in literature nor reported to clinical databases like in ClinVar, Human Gene Mutation Database (HGMD) or OMIM, in any affected individuals. In silico pathogenicity prediction programs like MutationTaster2, CADD, Varsome, Franklin etc predicted this variant to be likely deleterious. This variant causes frameshift at the 8th amino acid position of the wild-type transcript which creates a premature translational stop signal in the altered transcript that may either result in translation of a truncated protein or cause nonsense-mediated decay of the mRNA.

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.