Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004839639 | SCV005470637 | uncertain significance | not specified | 2024-08-27 | criteria provided, single submitter | clinical testing | The c.994G>A (p.E332K) alteration is located in exon 1 (coding exon 1) of the PDHA2 gene. This alteration results from a G to A substitution at nucleotide position 994, causing the glutamic acid (E) at amino acid position 332 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |