Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001389566 | SCV001590961 | pathogenic | Mucopolysaccharidosis, MPS-III-A | 2023-08-02 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1075867). This variant has not been reported in the literature in individuals affected with SGSH-related conditions. This sequence change creates a premature translational stop signal (p.Lys156*) in the SGSH gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SGSH are known to be pathogenic (PMID: 11182930, 21204211, 22976768). |
Baylor Genetics | RCV001389566 | SCV004201137 | likely pathogenic | Mucopolysaccharidosis, MPS-III-A | 2022-11-30 | criteria provided, single submitter | clinical testing |