Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001247276 | SCV001420688 | uncertain significance | Mucopolysaccharidosis type 1 | 2022-11-01 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 165 of the IDUA protein (p.Gly165Asp). This variant is present in population databases (rs150763745, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with IDUA-related conditions. ClinVar contains an entry for this variant (Variation ID: 971486). 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 tolerated. 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. |
Fulgent Genetics, |
RCV002480846 | SCV002779883 | uncertain significance | Mucopolysaccharidosis, MPS-I-S; Hurler syndrome; Mucopolysaccharidosis, MPS-I-H/S | 2021-07-06 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003987813 | SCV004804390 | uncertain significance | not specified | 2024-01-11 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001247276 | SCV002075292 | uncertain significance | Mucopolysaccharidosis type 1 | 2020-04-22 | no assertion criteria provided | clinical testing |