Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000674453 | SCV000799791 | uncertain significance | Mucopolysaccharidosis, MPS-III-A | 2018-05-14 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000674453 | SCV002045120 | uncertain significance | Mucopolysaccharidosis, MPS-III-A | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000674453 | SCV002999605 | uncertain significance | Mucopolysaccharidosis, MPS-III-A | 2022-05-10 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Asp484Argfs*18) in the SGSH gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 19 amino acid(s) of the SGSH protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SGSH-related conditions. ClinVar contains an entry for this variant (Variation ID: 558220). This variant disrupts the C-terminus of the SGSH protein. Other variant(s) that disrupt this region (p.Glu489*, p.Gln496*) have been observed in individuals with SGSH-related conditions (PMID: 21204211, 32036093). This suggests that this may be a clinically significant region of the protein. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |