Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000629190 | SCV000750107 | uncertain significance | Chédiak-Higashi syndrome | 2022-10-13 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with lysine, which is basic and polar, at codon 159 of the LYST protein (p.Arg159Lys). This variant is present in population databases (rs111806240, gnomAD 0.02%). 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: 525148). 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. 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. |
Institute for Clinical Genetics, |
RCV003237960 | SCV002010557 | uncertain significance | not provided | 2021-11-03 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002263842 | SCV002543636 | uncertain significance | Autoinflammatory syndrome | 2017-04-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002528825 | SCV003742835 | uncertain significance | Inborn genetic diseases | 2022-10-26 | criteria provided, single submitter | clinical testing | The c.476G>A (p.R159K) alteration is located in exon 5 (coding exon 3) of the LYST gene. This alteration results from a G to A substitution at nucleotide position 476, causing the arginine (R) at amino acid position 159 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Revvity Omics, |
RCV000629190 | SCV003815249 | uncertain significance | Chédiak-Higashi syndrome | 2019-09-25 | criteria provided, single submitter | clinical testing |