Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001065367 | SCV001230323 | uncertain significance | MEGF8-related Carpenter syndrome | 2019-04-11 | criteria provided, single submitter | clinical testing | 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"). 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. This variant has not been reported in the literature in individuals with MEGF8-related conditions. This variant is present in population databases (rs764246520, ExAC 0.05%). This sequence change replaces alanine with glycine at codon 176 of the MEGF8 protein (p.Ala176Gly). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and glycine. |