Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002021998 | SCV002263042 | uncertain significance | Fanconi anemia | 2023-07-31 | 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: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The leucine 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: 1480165). This variant has not been reported in the literature in individuals affected with FANCM-related conditions. This variant is present in population databases (rs761671822, gnomAD 0.003%). This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 960 of the FANCM protein (p.Phe960Leu). |
| Ambry Genetics | RCV005343232 | SCV006004292 | uncertain significance | Inborn genetic diseases | 2025-02-22 | criteria provided, single submitter | clinical testing | The p.F960L variant (also known as c.2878T>C), located in coding exon 14 of the FANCM gene, results from a T to C substitution at nucleotide position 2878. The phenylalanine at codon 960 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear. |