Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004436157 | SCV004925200 | uncertain significance | not specified | 2024-03-12 | criteria provided, single submitter | clinical testing | The c.1285G>A (p.E429K) alteration is located in exon 13 (coding exon 10) of the CEP250 gene. This alteration results from a G to A substitution at nucleotide position 1285, causing the glutamic acid (E) at amino acid position 429 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |