Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV003364884 | SCV004078976 | uncertain significance | Inborn genetic diseases | 2023-07-30 | criteria provided, single submitter | clinical testing | The c.1793G>T (p.R598L) alteration is located in exon 15 (coding exon 14) of the CPT1A gene. This alteration results from a G to T substitution at nucleotide position 1793, causing the arginine (R) at amino acid position 598 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |