Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001874237 | SCV002118858 | uncertain significance | not provided | 2022-09-06 | 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: "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. ClinVar contains an entry for this variant (Variation ID: 1361103). This variant has not been reported in the literature in individuals affected with CEP250-related conditions. This variant is present in population databases (rs367689715, gnomAD 0.02%). This sequence change replaces threonine with isoleucine at codon 2131 of the CEP250 protein (p.Thr2131Ile). The threonine residue is weakly conserved and there is a moderate physicochemical difference between threonine and isoleucine. |
Ambry Genetics | RCV004039759 | SCV003879123 | uncertain significance | not specified | 2023-02-27 | criteria provided, single submitter | clinical testing | The c.6392C>T (p.T2131I) 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 6392, causing the threonine (T) at amino acid position 2131 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |