Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV003637660 | SCV004429970 | uncertain significance | Fanconi anemia | 2023-10-03 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with serine, which is neutral and polar, at codon 756 of the FANCM protein (p.Arg756Ser). This variant is present in population databases (rs756870111, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with FANCM-related conditions. 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. |
Ambry Genetics | RCV004980918 | SCV005580766 | uncertain significance | Inborn genetic diseases | 2024-10-15 | criteria provided, single submitter | clinical testing | The p.R756S variant (also known as c.2266C>A), located in coding exon 13 of the FANCM gene, results from a C to A substitution at nucleotide position 2266. The arginine at codon 756 is replaced by serine, an amino acid with dissimilar 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. |