Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001049258 | SCV001213302 | uncertain significance | Fanconi anemia | 2021-08-26 | criteria provided, single submitter | clinical testing | This sequence change replaces serine with phenylalanine at codon 1469 of the SLX4 protein (p.Ser1469Phe). The serine residue is moderately conserved and there is a large physicochemical difference between serine and phenylalanine. This variant is present in population databases (rs759045352, 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably 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. |
Sema4, |
RCV001049258 | SCV002529352 | uncertain significance | Fanconi anemia | 2021-11-15 | criteria provided, single submitter | curation | |
Ambry Genetics | RCV002552655 | SCV003582655 | uncertain significance | Inborn genetic diseases | 2021-10-06 | criteria provided, single submitter | clinical testing | The c.4406C>T (p.S1469F) alteration is located in exon 12 (coding exon 11) of the SLX4 gene. This alteration results from a C to T substitution at nucleotide position 4406, causing the serine (S) at amino acid position 1469 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |