Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000817720 | SCV000958298 | uncertain significance | Chédiak-Higashi syndrome | 2022-06-22 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 464 of the LYST protein (p.Glu464Lys). This variant is present in population databases (rs374284011, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with LYST-related conditions. ClinVar contains an entry for this variant (Variation ID: 660511). 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. |
Centre for Mendelian Genomics, |
RCV000817720 | SCV001369354 | uncertain significance | Chédiak-Higashi syndrome | 2019-08-07 | criteria provided, single submitter | clinical testing | This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2. |
Genome Diagnostics Laboratory, |
RCV002264016 | SCV002543613 | uncertain significance | Autoinflammatory syndrome | 2018-05-01 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000817720 | SCV002794491 | uncertain significance | Chédiak-Higashi syndrome | 2021-09-01 | criteria provided, single submitter | clinical testing |