ClinVar Miner

Submissions for variant NM_000019.4(ACAT1):c.433C>G (p.Gln145Glu) (rs120074148)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pediatrics, Gifu University RCV000002980 SCV000966056 likely pathogenic Deficiency of acetyl-CoA acetyltransferase 2019-05-05 criteria provided, single submitter research
Invitae RCV000002980 SCV001541608 uncertain significance Deficiency of acetyl-CoA acetyltransferase 2020-10-19 criteria provided, single submitter clinical testing This sequence change replaces glutamine with glutamic acid at codon 145 of the ACAT1 protein (p.Gln145Glu). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and glutamic acid. This variant is present in population databases (rs120074148, ExAC 0.009%). This variant has been observed in individual(s) with beta-ketothiolase deficiency (PMID: 11161836). ClinVar contains an entry for this variant (Variation ID: 2846). Experimental studies have shown that this variant affects ACAT1 protein function (PMID: 11914035). 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.
OMIM RCV000002980 SCV000023138 pathogenic Deficiency of acetyl-CoA acetyltransferase 2002-03-01 no assertion criteria provided literature only

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