Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV001095745 | SCV001251588 | uncertain significance | Mucopolysaccharidosis, MPS-III-A | 2020-01-21 | criteria provided, single submitter | clinical testing | The SGSH c.1490C>T (p.Pro497Leu) 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.Pro497Leu variant is reported at a frequency of 0.000009 in the European (non-Finnish) population of the Genome Aggregation Database though this is based on one allele in a region of good sequence coverage so the variant is presumed to be rare. Based on the limited evidence, the p.Pro497Leu variant is classified as a variant of unknown significance for mucopolysaccharidosis, type III. |
Genome- |
RCV001095745 | SCV002045115 | uncertain significance | Mucopolysaccharidosis, MPS-III-A | 2021-11-07 | criteria provided, single submitter | clinical testing |