Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000821828 | SCV000962600 | uncertain significance | MEGF8-related Carpenter syndrome | 2018-10-04 | 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with MEGF8-related disease. This variant is present in population databases (rs764185083, ExAC 0.002%). This sequence change replaces arginine with glutamine at codon 2498 of the MEGF8 protein (p.Arg2498Gln). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and glutamine. |
| Ambry Genetics | RCV002535933 | SCV003580836 | uncertain significance | Inborn genetic diseases | 2021-09-16 | criteria provided, single submitter | clinical testing | The c.7493G>A (p.R2498Q) alteration is located in exon 41 (coding exon 41) of the MEGF8 gene. This alteration results from a G to A substitution at nucleotide position 7493, causing the arginine (R) at amino acid position 2498 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |