ClinVar Miner

Submissions for variant NM_000019.4(ACAT1):c.*6dup (rs111390656)

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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 RCV000266805 SCV000336091 benign not specified 2015-10-13 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000399813 SCV000366986 likely benign Deficiency of acetyl-CoA acetyltransferase 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000266805 SCV000918384 benign not specified 2018-02-05 criteria provided, single submitter clinical testing Variant summary: ACAT1 c.*6dupC is located in the untranslated mRNA region downstream of the termination codon. MutationTaster predicts no impact on Poly(A) signal and the variant to be a polymorphism. The variant allele was found at a frequency of 0.0077 in 2132/276872 control chromosomes in the gnomAD database, including 50 homozygotes. The observed variant frequency is approximately 2.67 fold of the estimated maximal expected allele frequency for a pathogenic variant in ACAT1 causing Alpha-methylacetoacetic aciduria phenotype (0.0029), strongly suggesting that the variant is benign. To our knowledge, no occurrence of c.*6dupC in individuals affected with Alpha-methylacetoacetic aciduria and no experimental evidence demonstrating its impact on protein function have been reported. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as benign/likely benign. Based on the evidence outlined above, the variant was classified as benign.

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