Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000690190 | SCV000817869 | uncertain significance | MEGF8-related Carpenter syndrome | 2018-04-24 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine with phenylalanine at codon 830 of the MEGF8 protein (p.Leu830Phe). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and phenylalanine. This variant is present in population databases (rs777017134, ExAC 0.01%). This variant has not been reported in the literature in individuals with MEGF8-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function 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. |