Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001345469 | SCV001539589 | uncertain significance | not provided | 2022-08-06 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 471 of the CEP250 protein (p.Ala471Gly). This variant is present in population databases (rs199644814, gnomAD 0.02%). 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: 1041633). 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: "Benign"; 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 | RCV004036460 | SCV003531432 | uncertain significance | not specified | 2021-07-15 | criteria provided, single submitter | clinical testing | The c.1412C>G (p.A471G) alteration is located in exon 14 (coding exon 11) of the CEP250 gene. This alteration results from a C to G substitution at nucleotide position 1412, causing the alanine (A) at amino acid position 471 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |