Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001366744 | SCV001563059 | uncertain significance | Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 | 2021-08-31 | criteria provided, single submitter | clinical testing | This sequence change replaces serine with cysteine at codon 539 of the HGSNAT protein (p.Ser539Cys). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and cysteine. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with mucopolysaccharidosis IIIC (PMID: 18024218). ClinVar contains an entry for this variant (Variation ID: 830366). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. Experimental studies have shown that this missense change affects HGSNAT function (PMID: 19823584, 20583299). 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. |
Gene |
RCV001030803 | SCV001194292 | not provided | Mucopolysaccharidosis | no assertion provided | literature only |