ClinVar Miner

Submissions for variant NM_000019.4(ACAT1):c.13G>C (p.Ala5Pro)

gnomAD frequency: 0.27945  dbSNP: rs3741056
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000077929 SCV000109758 benign not specified 2016-02-05 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000391653 SCV000366969 benign Deficiency of acetyl-CoA acetyltransferase 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV000391653 SCV001722248 benign Deficiency of acetyl-CoA acetyltransferase 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000391653 SCV001750289 benign Deficiency of acetyl-CoA acetyltransferase 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV001647046 SCV001856568 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000077929 SCV001742058 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000077929 SCV001951127 benign not specified no assertion criteria provided clinical testing
Natera, Inc. RCV000391653 SCV002094693 benign Deficiency of acetyl-CoA acetyltransferase 2019-11-19 no assertion criteria provided clinical testing

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