Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002884885 | SCV003648163 | uncertain significance | Inborn genetic diseases | 2022-09-27 | criteria provided, single submitter | clinical testing | The c.2306C>G (p.S769C) alteration is located in exon 19 (coding exon 18) of the CPT1A gene. This alteration results from a C to G substitution at nucleotide position 2306, causing the serine (S) at amino acid position 769 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |