Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genome Diagnostics Laboratory, |
RCV002262049 | SCV002543672 | uncertain significance | Autoinflammatory syndrome | 2020-11-16 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002488657 | SCV002790796 | uncertain significance | Chédiak-Higashi syndrome | 2022-02-09 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002488657 | SCV003525621 | uncertain significance | Chédiak-Higashi syndrome | 2022-08-01 | criteria provided, single submitter | clinical testing | This sequence change replaces isoleucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 2927 of the LYST protein (p.Ile2927Phe). This variant is present in population databases (rs554841002, gnomAD 0.09%). 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: 1694327). 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: "Possibly 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. |
Center for Genomics, |
RCV002488657 | SCV003920172 | uncertain significance | Chédiak-Higashi syndrome | 2022-03-18 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature but is present in 0.08% (25/30610) of South Asian alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/1-235896825-T-A?dataset=gnomad_r2_1). Evolutionary conservation and computational predictive tools suggest that this variant may not impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain. |