Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004374686 | SCV004850232 | uncertain significance | Inborn genetic diseases | 2024-02-17 | criteria provided, single submitter | clinical testing | The c.1621G>A (p.A541T) alteration is located in exon 14 (coding exon 13) of the CPT1A gene. This alteration results from a G to A substitution at nucleotide position 1621, causing the alanine (A) at amino acid position 541 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |