Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Fulgent Genetics, |
RCV004526612 | SCV005682987 | likely pathogenic | Mucopolysaccharidosis, MPS-II | 2024-03-22 | criteria provided, single submitter | clinical testing | |
| Laboratory of Diagnosis and Therapy of Lysosomal Disorders, |
RCV004526612 | SCV005089555 | pathogenic | Mucopolysaccharidosis, MPS-II | 2024-06-07 | criteria provided, single submitter | literature only | In vitro or in vivo functional studies supportive of a damaging effect (PS3_Strong), Absent from controls (or at low frequency) in gnomAD database (PM2_Moderate), Missense variant in a gene with a low rate of benign missense variation (PP2_Supporting), Multiple lines of computational evidence support a deleterious effect (PP3_Supporting), Patient’s phenotype or family history highly specific for the disease (PP4_Strong) |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV004526612 | SCV005039728 | pathogenic | Mucopolysaccharidosis, MPS-II | 2024-03-19 | criteria provided, single submitter | clinical testing | Variant summary: IDS c.1403G>C (p.Arg468Pro) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 183290 control chromosomes (gnomAD). c.1403G>C has been reported in the literature in individuals affected with Mucopolysaccharidosis Type II (Hunter Syndrome; Charoenwattanasatien_2012, Ramirez-Hernanzez_2022). These data indicate that the variant may be associated with disease. At least one publication reports experimental evidence evaluating an impact on protein function, finding that the variant results in no IDS activity in transfected COS7 cells (Charoenwattanasatien_2012). Other missense variants affecting this residue have been determined to be pathogenic. The following publications have been ascertained in the context of this evaluation (PMID: 22990955, 35916809). ClinVar contains an entry for this variant (Variation ID: 92615). Based on the evidence outlined above, the variant was classified as pathogenic. |
| Eurofins Ntd Llc |
RCV000180472 | SCV000232922 | pathogenic | not provided | 2015-08-11 | criteria provided, single submitter | clinical testing |