Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001938297 | SCV002195414 | uncertain significance | not provided | 2021-01-25 | 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 output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The tryptophan amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with CEP250-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with tryptophan at codon 1703 of the CEP250 protein (p.Arg1703Trp). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and tryptophan. |
Ambry Genetics | RCV004043574 | SCV003638455 | uncertain significance | not specified | 2022-07-26 | criteria provided, single submitter | clinical testing | The c.5107A>T (p.R1703W) alteration is located in exon 30 (coding exon 27) of the CEP250 gene. This alteration results from a A to T substitution at nucleotide position 5107, causing the arginine (R) at amino acid position 1703 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |