Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV001095746 | SCV001251589 | uncertain significance | Mucopolysaccharidosis, MPS-III-A | 2020-01-21 | criteria provided, single submitter | clinical testing | The SGSH c.658G>C (p.Val220Leu) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. The p.Val220Leu variant is reported at a frequency of 0.000142 in the European (non-Finnish) population of the Genome Aggregation Database in a region of good sequence coverage. Based on the limited evidence, the p.Val220Leu variant is classified as a variant of unknown significance for mucopolysaccharidosis, type III. |
Genome- |
RCV001095746 | SCV002045444 | uncertain significance | Mucopolysaccharidosis, MPS-III-A | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001095746 | SCV002172553 | uncertain significance | Mucopolysaccharidosis, MPS-III-A | 2022-07-02 | criteria provided, single submitter | clinical testing | This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 220 of the SGSH protein (p.Val220Leu). This variant is present in population databases (rs150508741, gnomAD 0.01%). 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: 873500). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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. |