Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001220427 | SCV001392415 | uncertain significance | not provided | 2022-08-23 | criteria provided, single submitter | clinical testing | This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 2333 of the CEP250 protein (p.Pro2333Leu). This variant is present in population databases (rs758278372, gnomAD 0.05%). 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: 949048). 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: "Possibly 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 | RCV004032392 | SCV003695939 | uncertain significance | not specified | 2021-09-16 | criteria provided, single submitter | clinical testing | The c.6998C>T (p.P2333L) alteration is located in exon 33 (coding exon 30) of the CEP250 gene. This alteration results from a C to T substitution at nucleotide position 6998, causing the proline (P) at amino acid position 2333 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |