Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000470116 | SCV000547439 | uncertain significance | Fanconi anemia | 2022-08-23 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 1802 of the SLX4 protein (p.Asp1802Asn). This variant is present in population databases (rs760435859, gnomAD 0.2%). This variant has not been reported in the literature in individuals affected with SLX4-related conditions. ClinVar contains an entry for this variant (Variation ID: 407900). 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: "Probably Damaging"; Align-GVGD: "Class C15"). 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. |
Fulgent Genetics, |
RCV002481426 | SCV002779608 | uncertain significance | Fanconi anemia complementation group P | 2022-04-20 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003409623 | SCV004113085 | uncertain significance | SLX4-related condition | 2023-08-23 | criteria provided, single submitter | clinical testing | The SLX4 c.5404G>A variant is predicted to result in the amino acid substitution p.Asp1802Asn. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.15% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/16-3632444-C-T). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |
Ce |
RCV003418175 | SCV004144887 | uncertain significance | not provided | 2023-10-01 | criteria provided, single submitter | clinical testing | SLX4: PP2 |