Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004374689 | SCV004850237 | uncertain significance | Inborn genetic diseases | 2023-12-15 | criteria provided, single submitter | clinical testing | The c.1927A>G (p.M643V) alteration is located in exon 16 (coding exon 15) of the CPT1A gene. This alteration results from a A to G substitution at nucleotide position 1927, causing the methionine (M) at amino acid position 643 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |