Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000996124 | SCV001150606 | uncertain significance | not provided | 2017-09-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001057304 | SCV001221789 | uncertain significance | Chédiak-Higashi syndrome | 2022-07-19 | criteria provided, single submitter | clinical testing | This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1505 of the LYST protein (p.Ile1505Val). This variant is present in population databases (rs756527927, 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: 807915). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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. |
Mayo Clinic Laboratories, |
RCV000996124 | SCV001715408 | uncertain significance | not provided | 2020-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000996124 | SCV004012305 | uncertain significance | not provided | 2023-01-09 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function |