Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001317774 | SCV001508449 | uncertain significance | Fanconi anemia | 2023-07-09 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 1018470). This variant has not been reported in the literature in individuals affected with SLX4-related conditions. This variant is present in population databases (rs201826765, gnomAD 0.006%). This sequence change replaces aspartic acid, which is acidic and polar, with glutamic acid, which is acidic and polar, at codon 1334 of the SLX4 protein (p.Asp1334Glu). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The glutamic acid 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. |
| Fulgent Genetics, |
RCV002486253 | SCV002785040 | uncertain significance | Fanconi anemia complementation group P | 2021-11-30 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV003294274 | SCV003993004 | uncertain significance | Inborn genetic diseases | 2023-06-01 | criteria provided, single submitter | clinical testing | The c.4002C>A (p.D1334E) alteration is located in exon 12 (coding exon 11) of the SLX4 gene. This alteration results from a C to A substitution at nucleotide position 4002, causing the aspartic acid (D) at amino acid position 1334 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |