Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV003277299 | SCV003983975 | uncertain significance | Inborn genetic diseases | 2023-05-17 | criteria provided, single submitter | clinical testing | The c.728G>A (p.R243Q) alteration is located in exon 7 (coding exon 6) of the CPT1A gene. This alteration results from a G to A substitution at nucleotide position 728, causing the arginine (R) at amino acid position 243 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |