Total submissions: 2
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. |
Prevention |
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. |