Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001037861 | SCV001201293 | uncertain significance | not provided | 2023-08-04 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with CEP250-related conditions. This variant is present in population databases (rs562851586, gnomAD 0.01%). This sequence change replaces glutamine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 2362 of the CEP250 protein (p.Gln2362Leu). ClinVar contains an entry for this variant (Variation ID: 836676). 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. 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 | RCV004031044 | SCV004926209 | uncertain significance | not specified | 2023-10-13 | criteria provided, single submitter | clinical testing | The c.7085A>T (p.Q2362L) alteration is located in exon 35 (coding exon 32) of the CEP250 gene. This alteration results from a A to T substitution at nucleotide position 7085, causing the glutamine (Q) at amino acid position 2362 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |