Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory of Basic Medicine, |
RCV004566519 | SCV005046951 | likely pathogenic | Deficiency of acetyl-CoA acetyltransferase | criteria provided, single submitter | research | This variant has been detected in compound heterozygous state in a patient with beta-ketothiolase deficiency (BKD) in our lab, and with a Likely Pathogenic variant (NM_000019.4:c.547G>A) (PM3). Different missense variants (p.Gly388Glu and p.Gly388Val) in the same codon have been reported in BKD patients (PMID: 28255778, 31156707, 36787440), and p.Gly388Glu has been classified as Likely Pathogenic in clinvar (Variation ID: 666529) (PM5). The REVEL of this variant is 0.962 (PP3). This variant has been observed at a frequency of 0.000398% (1/251266 alleles, 0 homozygotes) in gnomAD v2.1.1 (PM2_Supporting). |