Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV003213506 | SCV003909642 | uncertain significance | Inborn genetic diseases | 2023-03-07 | criteria provided, single submitter | clinical testing | The c.1847T>C (p.V616A) alteration is located in exon 15 (coding exon 14) of the CPT1A gene. This alteration results from a T to C substitution at nucleotide position 1847, causing the valine (V) at amino acid position 616 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |