Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV003242783 | SCV003980837 | uncertain significance | Inborn genetic diseases | 2023-05-17 | criteria provided, single submitter | clinical testing | The c.175C>T (p.P59S) alteration is located in exon 3 (coding exon 2) of the CPT1A gene. This alteration results from a C to T substitution at nucleotide position 175, causing the proline (P) at amino acid position 59 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |