Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001322406 | SCV001513274 | uncertain significance | not provided | 2022-12-06 | criteria provided, single submitter | clinical testing | 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: "Probably 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 1022494). This variant has not been reported in the literature in individuals affected with CEP250-related conditions. This variant is present in population databases (rs776264848, gnomAD 0.006%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 546 of the CEP250 protein (p.Arg546Gln). |
Ambry Genetics | RCV004035065 | SCV003954311 | uncertain significance | not specified | 2023-03-28 | criteria provided, single submitter | clinical testing | The c.1637G>A (p.R546Q) alteration is located in exon 15 (coding exon 12) of the CEP250 gene. This alteration results from a G to A substitution at nucleotide position 1637, causing the arginine (R) at amino acid position 546 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |