Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002044170 | SCV002112449 | uncertain significance | not provided | 2021-03-07 | 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. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). 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 falls in intron 8 of the CEP250 gene. It does not directly change the encoded amino acid sequence of the CEP250 protein. It affects a nucleotide within the consensus splice site of the intron. |