Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001968353 | SCV002238622 | uncertain significance | not provided | 2022-07-05 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 415 of the CEP250 protein (p.Ala415Ser). This variant is present in population databases (rs568247716, gnomAD 0.01%). 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: 1462215). 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 | RCV004044458 | SCV004925199 | uncertain significance | not specified | 2024-01-02 | criteria provided, single submitter | clinical testing | The c.1243G>T (p.A415S) alteration is located in exon 13 (coding exon 10) of the CEP250 gene. This alteration results from a G to T substitution at nucleotide position 1243, causing the alanine (A) at amino acid position 415 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |