Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003106540 | SCV003779769 | uncertain significance | Multiple congenital exostosis | 2022-04-03 | 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: "Deleterious"; PolyPhen-2: "Probably 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 affected with EXT1-related conditions. This variant is present in population databases (rs759603929, gnomAD 0.002%). This sequence change replaces aspartic acid, which is acidic and polar, with histidine, which is basic and polar, at codon 240 of the EXT1 protein (p.Asp240His). |