ClinVar Miner

Submissions for variant NM_000019.4(ACAT1):c.1253G>A (p.Gly418Asp) (rs886042080)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000370142 SCV000331078 uncertain significance not provided 2016-05-02 criteria provided, single submitter clinical testing
Invitae RCV000811411 SCV000951677 uncertain significance Deficiency of acetyl-CoA acetyltransferase 2018-12-04 criteria provided, single submitter clinical testing This sequence change replaces glycine with aspartic acid at codon 418 of the ACAT1 protein (p.Gly418Asp). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and aspartic acid. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with beta-ketothiolase deficiency (PMID: 28689740). ClinVar contains an entry for this variant (Variation ID: 281026). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
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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