Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001247395 | SCV001420813 | likely benign | Deficiency of acetyl-CoA acetyltransferase | 2023-12-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002568679 | SCV003546573 | uncertain significance | Inborn genetic diseases | 2021-03-30 | criteria provided, single submitter | clinical testing | The c.1028A>G (p.K343R) alteration is located in exon 11 (coding exon 11) of the ACAT1 gene. This alteration results from a A to G substitution at nucleotide position 1028, causing the lysine (K) at amino acid position 343 to be replaced by an arginine (R). The p.K343R alteration is predicted to be tolerated by in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Natera, |
RCV001247395 | SCV002090043 | likely benign | Deficiency of acetyl-CoA acetyltransferase | 2021-02-25 | no assertion criteria provided | clinical testing |