Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001316527 | SCV001507152 | uncertain significance | not provided | 2022-06-24 | criteria provided, single submitter | clinical testing | This sequence change replaces histidine, which is basic and polar, with tyrosine, which is neutral and polar, at codon 1974 of the CEP250 protein (p.His1974Tyr). 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. 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"). ClinVar contains an entry for this variant (Variation ID: 1017381). This variant has not been reported in the literature in individuals affected with CEP250-related conditions. This variant is not present in population databases (gnomAD no frequency). |
| Ambry Genetics | RCV004034395 | SCV003989147 | uncertain significance | not specified | 2023-06-02 | criteria provided, single submitter | clinical testing | The c.5920C>T (p.H1974Y) alteration is located in exon 30 (coding exon 27) of the CEP250 gene. This alteration results from a C to T substitution at nucleotide position 5920, causing the histidine (H) at amino acid position 1974 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |