Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV003290864 | SCV003963442 | uncertain significance | Inborn genetic diseases | 2023-03-27 | criteria provided, single submitter | clinical testing | The c.454G>A (p.G152S) alteration is located in exon 5 (coding exon 4) of the CPT1A gene. This alteration results from a G to A substitution at nucleotide position 454, causing the glycine (G) at amino acid position 152 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |