Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001923989 | SCV002199364 | pathogenic | Deficiency of hydroxymethylglutaryl-CoA lyase | 2022-04-08 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with HMGCL-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asp204Thrfs*11) in the HMGCL gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in HMGCL are known to be pathogenic (PMID: 9817922, 17692550, 23465862). |
Baylor Genetics | RCV001923989 | SCV004199881 | likely pathogenic | Deficiency of hydroxymethylglutaryl-CoA lyase | 2024-02-06 | criteria provided, single submitter | clinical testing |