Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001059682 | SCV001224313 | uncertain significance | not provided | 2022-10-05 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 1544 of the CEP250 protein (p.Gln1544His). This variant is present in population databases (rs138568893, 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: 854598). 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 | RCV004031892 | SCV003732948 | uncertain significance | not specified | 2021-06-11 | criteria provided, single submitter | clinical testing | The c.4632G>T (p.Q1544H) alteration is located in exon 30 (coding exon 27) of the CEP250 gene. This alteration results from a G to T substitution at nucleotide position 4632, causing the glutamine (Q) at amino acid position 1544 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |