Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001385919 | SCV001585937 | pathogenic | Deficiency of hyaluronoglucosaminidase | 2022-07-05 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1073037). This variant has not been reported in the literature in individuals affected with HYAL1-related conditions. This variant is present in population databases (rs782240278, gnomAD 0.005%). This sequence change creates a premature translational stop signal (p.Gln263*) in the HYAL1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in HYAL1 are known to be pathogenic (PMID: 10339581, 21559944). |