ClinVar Miner

Submissions for variant NM_000019.4(ACAT1):c.1136G>T (p.Gly379Val)

gnomAD frequency: 0.00001  dbSNP: rs120074143
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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 RCV000002973 SCV000966118 likely pathogenic Deficiency of acetyl-CoA acetyltransferase 2019-05-05 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV000002973 SCV001486268 likely pathogenic Deficiency of acetyl-CoA acetyltransferase 2023-05-10 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Experimental studies have shown that this missense change affects ACAT1 function (PMID: 7749408). 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) performed at Invitae indicates that this missense variant is expected to disrupt ACAT1 protein function. ClinVar contains an entry for this variant (Variation ID: 2839). This missense change has been observed in individual(s) with beta-ketothiolase deficiency (PMID: 7907600). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 379 of the ACAT1 protein (p.Gly379Val).
OMIM RCV000002973 SCV000023131 pathogenic Deficiency of acetyl-CoA acetyltransferase 1994-03-01 no assertion criteria provided literature only

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