Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001045809 | SCV001209683 | uncertain significance | not provided | 2022-09-06 | criteria provided, single submitter | clinical testing | This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 161 of the CEP250 protein (p.Met161Thr). This variant is present in population databases (rs140783729, gnomAD 0.06%). This variant has not been reported in the literature in individuals affected with CEP250-related conditions. ClinVar contains an entry for this variant (Variation ID: 843236). 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: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available"). 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. |
Ambry Genetics | RCV004031413 | SCV004925220 | uncertain significance | not specified | 2023-03-02 | criteria provided, single submitter | clinical testing | The c.482T>C (p.M161T) alteration is located in exon 7 (coding exon 4) of the CEP250 gene. This alteration results from a T to C substitution at nucleotide position 482, causing the methionine (M) at amino acid position 161 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |