ClinVar Miner

Submissions for variant NM_000019.4(ACAT1):c.455G>C (p.Gly152Ala) (rs762991875)

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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 RCV000779680 SCV000966059 likely pathogenic Deficiency of acetyl-CoA acetyltransferase 2019-05-05 criteria provided, single submitter research
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000179236 SCV000231452 likely pathogenic not provided 2015-02-04 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000779680 SCV000916408 pathogenic Deficiency of acetyl-CoA acetyltransferase 2017-09-28 criteria provided, single submitter clinical testing Variant summary: The ACAT1 c.455G>C (p.Gly152Ala) variant involves the alteration of a conserved nucleotide located in the buried Nbeta4 near an active site (Fukao_2002) and 4/4 in silico tools predict a damaging outcome for this variant (SNPsandGO not captured due to low reliability index). Functional studies support these predictions observing the variant to affect protein folding and/or dimerization but also accumulated unstable mutant protein (Fukao_2002 and Zhang_2004). This variant was found in 14/246162 control chromosomes at a frequency of 0.0000569, which does not exceed the estimated maximal expected allele frequency of a pathogenic ACAT1 variant (0.0028868). Multiple publications cite the variant in affected compound heterozygote patients. In addition, a clinical diagnostic laboratory classified this variant as likely pathogenic. Taken together, this variant is classified as pathogenic.

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