Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000523238 | SCV000619862 | uncertain significance | not provided | 2019-12-18 | criteria provided, single submitter | clinical testing | Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function |
Invitae | RCV000696852 | SCV000825432 | uncertain significance | Chédiak-Higashi syndrome | 2021-08-30 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine with histidine at codon 3785 of the LYST protein (p.Arg3785His). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs370173269, ExAC 0.01%). 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: 451194). 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: "Probably 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. |
Illumina Laboratory Services, |
RCV000696852 | SCV001252397 | uncertain significance | Chédiak-Higashi syndrome | 2017-04-28 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Genome Diagnostics Laboratory, |
RCV002263728 | SCV002543610 | uncertain significance | Autoinflammatory syndrome | 2018-08-01 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV000523238 | SCV004224802 | uncertain significance | not provided | 2022-04-13 | criteria provided, single submitter | clinical testing |