ClinVar Miner

Submissions for variant NM_000019.4(ACAT1):c.274G>A (p.Gly92Ser)

dbSNP: rs1591362402
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000799776 SCV000939455 pathogenic Deficiency of acetyl-CoA acetyltransferase 2023-03-10 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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: 645647). This missense change has been observed in individual(s) with clinical features of beta-ketothiolase deficiency (Invitae). 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 serine, which is neutral and polar, at codon 92 of the ACAT1 protein (p.Gly92Ser).

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