Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004374690 | SCV004850238 | uncertain significance | Inborn genetic diseases | 2023-12-12 | criteria provided, single submitter | clinical testing | The c.2116G>A (p.V706M) alteration is located in exon 17 (coding exon 16) of the CPT1A gene. This alteration results from a G to A substitution at nucleotide position 2116, causing the valine (V) at amino acid position 706 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |