ClinVar Miner

Submissions for variant NM_000019.4(ACAT1):c.816G>T (p.Gln272His)

gnomAD frequency: 0.00021  dbSNP: rs139120939
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001239124 SCV001411975 uncertain significance Deficiency of acetyl-CoA acetyltransferase 2022-10-30 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 272 of the ACAT1 protein (p.Gln272His). This variant is present in population databases (rs139120939, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with ACAT1-related conditions. ClinVar contains an entry for this variant (Variation ID: 964818). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on ACAT1 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Genome-Nilou Lab RCV001239124 SCV001781310 uncertain significance Deficiency of acetyl-CoA acetyltransferase 2021-07-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002567928 SCV003695806 uncertain significance Inborn genetic diseases 2020-11-06 criteria provided, single submitter clinical testing The c.816G>T (p.Q272H) alteration is located in exon 8 (coding exon 8) of the ACAT1 gene. This alteration results from a G to T substitution at nucleotide position 816, causing the glutamine (Q) at amino acid position 272 to be replaced by a histidine (H). Based on data from the Genome Aggregation Database (gnomAD) database, the ACAT1 c.816G>T alteration was observed in 0.02% (46/281974) of total alleles studied, with a frequency of 0.04% (14/35388) in the Latino subpopulation. This amino acid position is well conserved in available vertebrate species. The p.Q272H 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, Inc. RCV001239124 SCV001465348 uncertain significance Deficiency of acetyl-CoA acetyltransferase 2020-04-11 no assertion criteria provided clinical testing

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