Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001031066 | SCV001194372 | pathogenic | Mucopolysaccharidosis, MPS-IV-A | 2019-07-02 | 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 conditions. This variant is an out-of-frame deletion of the genomic region encompassing exon 10 of the GALNS gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. |