ClinVar Miner

Submissions for variant NM_014362.4(HIBCH):c.609del (p.Gly204fs)

dbSNP: rs776592661
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000810904 SCV000951142 pathogenic Beta-hydroxyisobutyryl-CoA deacylase deficiency 2023-07-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly204Glufs*14) in the HIBCH gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in HIBCH are known to be pathogenic (PMID: 17160907, 26163321). This variant is present in population databases (rs776592661, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with HIBCH-related conditions. ClinVar contains an entry for this variant (Variation ID: 654855). For these reasons, this variant has been classified as Pathogenic.
PreventionGenetics, part of Exact Sciences RCV003413630 SCV004115682 likely pathogenic HIBCH-related condition 2023-07-18 criteria provided, single submitter clinical testing The HIBCH c.609delA variant is predicted to result in a frameshift and premature protein termination (p.Gly204Glufs*14). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.00088% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-191116941-CT-C). Frameshift variants in HIBCH are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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.