Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001214372 | SCV001386049 | uncertain significance | Fanconi anemia | 2021-09-02 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamic acid with aspartic acid at codon 140 of the SLX4 protein (p.Glu140Asp). The glutamic acid residue is weakly conserved and there is a small physicochemical difference between glutamic acid and aspartic acid. This variant is present in population databases (rs753015235, ExAC 0.03%). 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The aspartic 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. |
Sema4, |
RCV001214372 | SCV002529342 | uncertain significance | Fanconi anemia | 2021-08-19 | criteria provided, single submitter | curation | |
Fulgent Genetics, |
RCV002497733 | SCV002812120 | uncertain significance | Fanconi anemia complementation group P | 2021-07-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003163636 | SCV003902930 | uncertain significance | Inborn genetic diseases | 2023-02-15 | criteria provided, single submitter | clinical testing | The c.420G>T (p.E140D) alteration is located in exon 2 (coding exon 1) of the SLX4 gene. This alteration results from a G to T substitution at nucleotide position 420, causing the glutamic acid (E) at amino acid position 140 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |