Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001243357 | SCV001416510 | uncertain significance | not provided | 2023-07-10 | criteria provided, single submitter | clinical testing | 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. This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1210 of the CEP250 protein (p.Ala1210Val). This variant is present in population databases (rs199592435, 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: 968261). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. |
Ambry Genetics | RCV001796410 | SCV004925215 | uncertain significance | not specified | 2023-10-13 | criteria provided, single submitter | clinical testing | The c.3629C>T (p.A1210V) alteration is located in exon 26 (coding exon 23) of the CEP250 gene. This alteration results from a C to T substitution at nucleotide position 3629, causing the alanine (A) at amino acid position 1210 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Clinical Genetics, |
RCV001796410 | SCV002034353 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001243357 | SCV002038107 | likely benign | not provided | no assertion criteria provided | clinical testing |