Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001921535 | SCV002203382 | uncertain significance | not provided | 2022-07-12 | 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. 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"). ClinVar contains an entry for this variant (Variation ID: 1424283). This variant has not been reported in the literature in individuals affected with CEP250-related conditions. This variant is present in population databases (rs770666823, gnomAD 0.02%). This sequence change replaces alanine with serine at codon 387 of the CEP250 protein (p.Ala387Ser). The alanine residue is moderately conserved and there is a moderate physicochemical difference between alanine and serine. |
Ambry Genetics | RCV004044227 | SCV003632968 | uncertain significance | not specified | 2022-07-26 | criteria provided, single submitter | clinical testing | The c.1159G>T (p.A387S) alteration is located in exon 12 (coding exon 9) of the CEP250 gene. This alteration results from a G to T substitution at nucleotide position 1159, causing the alanine (A) at amino acid position 387 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |