Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000811352 | SCV000951613 | pathogenic | Mucopolysaccharidosis, MPS-IV-A | 2020-08-31 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in GALNS are known to be pathogenic (PMID: 12442278). This variant has not been reported in the literature in individuals with GALNS-related disease. This variant is an out-of-frame deletion of the genomic region encompassing exons 2-4 of the GALNS gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. |