ClinVar Miner

Submissions for variant NM_000019.4(ACAT1):c.1253G>A (p.Gly418Asp)

dbSNP: rs886042080
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000370142 SCV000331078 uncertain significance not provided 2016-05-02 criteria provided, single submitter clinical testing
Invitae RCV000811411 SCV000951677 likely pathogenic Deficiency of acetyl-CoA acetyltransferase 2023-02-26 criteria provided, single submitter clinical testing 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. 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. This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 418 of the ACAT1 protein (p.Gly418Asp). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with beta-ketothiolase deficiency (PMID: 28689740). ClinVar contains an entry for this variant (Variation ID: 281026).
Department of Pediatrics, Gifu University RCV000811411 SCV000966129 uncertain significance Deficiency of acetyl-CoA acetyltransferase 2019-05-05 criteria provided, single submitter research

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