Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001956978 | SCV002251547 | uncertain significance | not provided | 2023-05-13 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with CEP250-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: 1464799). This variant is present in population databases (rs756300112, gnomAD 0.05%). This sequence change replaces aspartic acid, which is acidic and polar, with glutamic acid, which is acidic and polar, at codon 1547 of the CEP250 protein (p.Asp1547Glu). |