Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001381252 | SCV001579571 | pathogenic | Mucopolysaccharidosis, MPS-III-D | 2023-12-13 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ser119Valfs*33) in the GNS gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GNS are known to be pathogenic (PMID: 20232353). This variant is present in population databases (rs749187018, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with GNS-related conditions. ClinVar contains an entry for this variant (Variation ID: 1069391). For these reasons, this variant has been classified as Pathogenic. |