Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000475020 | SCV000547480 | uncertain significance | Fanconi anemia | 2023-01-01 | criteria provided, single submitter | clinical testing | 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. 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 methionine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 407937). This variant has not been reported in the literature in individuals affected with SLX4-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.009%). This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 268 of the SLX4 protein (p.Val268Met). |
| Fulgent Genetics, |
RCV000764066 | SCV000895020 | uncertain significance | Fanconi anemia complementation group P | 2021-11-30 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002525560 | SCV003677277 | uncertain significance | Inborn genetic diseases | 2022-10-04 | criteria provided, single submitter | clinical testing | The c.802G>A (p.V268M) alteration is located in exon 4 (coding exon 3) of the SLX4 gene. This alteration results from a G to A substitution at nucleotide position 802, causing the valine (V) at amino acid position 268 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |