Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001031980 | SCV001195287 | pathogenic | Mucopolysaccharidosis, MPS-III-D | 2019-12-03 | criteria provided, single submitter | clinical testing | This variant is an out-of-frame deletion of the genomic region encompassing exons 3-8 of the GNS gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with GNS-related conditions. Loss-of-function variants in GNS are known to be pathogenic (PMID: 20232353). For these reasons, this variant has been classified as Pathogenic. |