ClinVar Miner

Submissions for variant NM_000019.4(ACAT1):c.854C>T (p.Thr285Ile) (rs1239221388)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pediatrics, Gifu University RCV000844816 SCV000966092 uncertain significance Deficiency of acetyl-CoA acetyltransferase 2019-05-05 criteria provided, single submitter literature only
Invitae RCV000844816 SCV001558583 uncertain significance Deficiency of acetyl-CoA acetyltransferase 2020-03-04 criteria provided, single submitter clinical testing This sequence change replaces threonine with isoleucine at codon 285 of the ACAT1 protein (p.Thr285Ile). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and isoleucine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with beta-ketothiolase deficiency (PMID: 24516753). ClinVar contains an entry for this variant (Variation ID: 666509). 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: Tolerated; PolyPhen-2: Probably Damaging; Align-GVGD: Class C1). 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. 5

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