Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001052425 | SCV001216635 | uncertain significance | Fanconi anemia | 2022-11-01 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with tryptophan, which is neutral and slightly polar, at codon 1738 of the SLX4 protein (p.Gly1738Trp). This variant is present in population databases (rs556217576, gnomAD 0.2%), including at least one homozygous and/or hemizygous individual. This missense change has been observed in individual(s) with male breast cancer (PMID: 30613976). ClinVar contains an entry for this variant (Variation ID: 848629). 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: "Deleterious"; 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. |
Sema4, |
RCV001052425 | SCV002529377 | uncertain significance | Fanconi anemia | 2022-03-10 | criteria provided, single submitter | curation | |
Fulgent Genetics, |
RCV002489623 | SCV002791091 | uncertain significance | Fanconi anemia complementation group P | 2022-03-16 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV002489623 | SCV003823917 | uncertain significance | Fanconi anemia complementation group P | 2021-09-22 | criteria provided, single submitter | clinical testing |