Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002707531 | SCV003553014 | uncertain significance | Inborn genetic diseases | 2020-12-08 | criteria provided, single submitter | clinical testing | The c.635G>T (p.G212V) alteration is located in exon 6 (coding exon 5) of the CPT1A gene. This alteration results from a G to T substitution at nucleotide position 635, causing the glycine (G) at amino acid position 212 to be replaced by a valine (V). The p.G212V alteration is predicted to be tolerated by in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |