Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001222716 | SCV001394831 | uncertain significance | MEGF8-related Carpenter syndrome | 2023-09-13 | criteria provided, single submitter | clinical testing | 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. ClinVar contains an entry for this variant (Variation ID: 950903). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1084 of the MEGF8 protein (p.Ala1084Thr). This variant is present in population databases (rs373631162, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with MEGF8-related conditions. |