ClinVar Miner

Submissions for variant NM_000019.4(ACAT1):c.547G>A (p.Gly183Arg) (rs120074141)

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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 RCV000002967 SCV000966065 likely pathogenic Deficiency of acetyl-CoA acetyltransferase 2019-05-05 criteria provided, single submitter research
Invitae RCV000002967 SCV001582981 pathogenic Deficiency of acetyl-CoA acetyltransferase 2020-03-29 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 183 of the ACAT1 protein (p.Gly183Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs120074141, ExAC 0.01%). This variant has been observed in individual(s) with beta-ketothiolase deficiency (PMID: 1346617, 28689740). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 2833). This variant has been reported to affect ACAT1 protein function (PMID: 7749408). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000002967 SCV000023125 pathogenic Deficiency of acetyl-CoA acetyltransferase 1992-02-01 no assertion criteria provided literature only

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