Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV003357798 | SCV004072818 | uncertain significance | Inborn genetic diseases | 2023-06-29 | criteria provided, single submitter | clinical testing | The c.970A>T (p.T324S) alteration is located in exon 10 (coding exon 9) of the CPT1A gene. This alteration results from a A to T substitution at nucleotide position 970, causing the threonine (T) at amino acid position 324 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |