Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004374687 | SCV004850233 | uncertain significance | Inborn genetic diseases | 2022-04-22 | criteria provided, single submitter | clinical testing | The c.1708G>C (p.V570L) alteration is located in exon 14 (coding exon 13) of the CPT1A gene. This alteration results from a G to C substitution at nucleotide position 1708, causing the valine (V) at amino acid position 570 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |