ClinVar Miner

Submissions for variant NM_000019.4(ACAT1):c.575A>G (p.His192Arg)

dbSNP: rs2077528154
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001196559 SCV001367167 uncertain significance Deficiency of acetyl-CoA acetyltransferase 2018-10-05 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence favors the pathogenic nature of this variant, however the currently available data is insufficient to conclusively support its pathogenic nature. Thus this variant is classified as Uncertain significance - favor pathogenic. The following ACMG criteria were applied in classifying this variant: PM2,PP2,PP3.
CeGaT Center for Human Genetics Tuebingen RCV003393874 SCV004131386 uncertain significance not provided 2023-08-01 criteria provided, single submitter clinical testing ACAT1: PM2, PP3

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