Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Santos- |
RCV000768666 | SCV000882558 | uncertain significance | Otitis media, susceptibility to | 2019-04-25 | criteria provided, single submitter | research | |
Invitae | RCV001855852 | SCV002295592 | uncertain significance | not provided | 2023-08-30 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with A2ML1-related conditions. 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. 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 617559). This variant is present in population databases (rs201288888, gnomAD 0.03%). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 777 of the A2ML1 protein (p.Gly777Arg). |
University of Washington Center for Mendelian Genomics, |
RCV001261818 | SCV001439147 | uncertain significance | Otitis media | no assertion criteria provided | research |