Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Sema4, |
RCV002255820 | SCV002529371 | uncertain significance | Fanconi anemia | 2021-12-15 | criteria provided, single submitter | curation | |
Fulgent Genetics, |
RCV002481063 | SCV002784656 | uncertain significance | Fanconi anemia complementation group P | 2022-05-26 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003101406 | SCV003530054 | uncertain significance | Inborn genetic diseases | 2022-06-24 | criteria provided, single submitter | clinical testing | The c.4903A>G (p.K1635E) alteration is located in exon 14 (coding exon 13) of the SLX4 gene. This alteration results from a A to G substitution at nucleotide position 4903, causing the lysine (K) at amino acid position 1635 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Invitae | RCV002255820 | SCV004274341 | uncertain significance | Fanconi anemia | 2024-01-19 | criteria provided, single submitter | clinical testing | This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 1635 of the SLX4 protein (p.Lys1635Glu). This variant is present in population databases (rs140417509, gnomAD 0.04%). 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: 1692018). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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. |
Prevention |
RCV003896091 | SCV004717650 | uncertain significance | SLX4-related disorder | 2024-02-13 | criteria provided, single submitter | clinical testing | The SLX4 c.4903A>G variant is predicted to result in the amino acid substitution p.Lys1635Glu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.048% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |