Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004655551 | SCV005151754 | uncertain significance | not specified | 2024-04-20 | criteria provided, single submitter | clinical testing | The c.427T>C (p.C143R) alteration is located in exon 1 (coding exon 1) of the PDHA2 gene. This alteration results from a T to C substitution at nucleotide position 427, causing the cysteine (C) at amino acid position 143 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |