Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000797408 | SCV000936962 | pathogenic | Deficiency of hyaluronoglucosaminidase | 2018-11-02 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in HYAL1 are known to be pathogenic (PMID: 10339581, 21559944). This variant has not been reported in the literature in individuals with HYAL1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu45*) in the HYAL1 gene. It is expected to result in an absent or disrupted protein product. |