Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001998867 | SCV002276339 | uncertain significance | Fanconi anemia | 2022-02-05 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1647 of the SLX4 protein (p.Ala1647Thr). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SLX4-related conditions. 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. |
| Ambry Genetics | RCV003170369 | SCV003885811 | uncertain significance | Inborn genetic diseases | 2023-01-06 | criteria provided, single submitter | clinical testing | The c.4939G>A (p.A1647T) alteration is located in exon 14 (coding exon 13) of the SLX4 gene. This alteration results from a G to A substitution at nucleotide position 4939, causing the alanine (A) at amino acid position 1647 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |