Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000193351 | SCV000247881 | uncertain significance | not specified | 2015-04-28 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000629218 | SCV000750136 | uncertain significance | Chédiak-Higashi syndrome | 2022-09-28 | criteria provided, single submitter | clinical testing | This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 3006 of the LYST protein (p.Lys3006Arg). This variant is present in population databases (rs140934482, gnomAD 0.1%), and has an allele count higher than expected for a pathogenic variant. 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: 211414). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt LYST protein function. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. |
Ce |
RCV000994285 | SCV001147718 | likely benign | not provided | 2023-12-01 | criteria provided, single submitter | clinical testing | LYST: BS1 |
Gene |
RCV000994285 | SCV001822249 | likely benign | not provided | 2020-09-29 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 29482223) |
Mayo Clinic Laboratories, |
RCV000994285 | SCV002541710 | uncertain significance | not provided | 2021-04-29 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002262790 | SCV002543676 | uncertain significance | Autoinflammatory syndrome | 2019-12-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002517949 | SCV003752507 | likely benign | Inborn genetic diseases | 2021-12-30 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Revvity Omics, |
RCV000629218 | SCV003815256 | uncertain significance | Chédiak-Higashi syndrome | 2019-10-10 | criteria provided, single submitter | clinical testing | |
Birmingham Platelet Group; University of Birmingham | RCV001270573 | SCV001450872 | uncertain significance | Abnormal bleeding; Thrombocytopenia | 2020-05-01 | no assertion criteria provided | research |