Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004436164 | SCV004925219 | uncertain significance | not specified | 2023-12-17 | criteria provided, single submitter | clinical testing | The c.4454G>A (p.C1485Y) alteration is located in exon 30 (coding exon 27) of the CEP250 gene. This alteration results from a G to A substitution at nucleotide position 4454, causing the cysteine (C) at amino acid position 1485 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |