ClinVar Miner

Submissions for variant NM_000199.5(SGSH):c.658G>C (p.Val220Leu)

dbSNP: rs150508741
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina 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-Nilou Lab 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.

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