Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004374693 | SCV004850246 | uncertain significance | Inborn genetic diseases | 2024-02-27 | criteria provided, single submitter | clinical testing | The c.767C>T (p.A256V) alteration is located in exon 7 (coding exon 6) of the CPT1A gene. This alteration results from a C to T substitution at nucleotide position 767, causing the alanine (A) at amino acid position 256 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |