Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004352137 | SCV004084743 | uncertain significance | not specified | 2023-07-17 | criteria provided, single submitter | clinical testing | The c.769G>A (p.E257K) alteration is located in exon 9 (coding exon 6) of the CEP250 gene. This alteration results from a G to A substitution at nucleotide position 769, causing the glutamic acid (E) at amino acid position 257 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |