ClinVar Miner

Submissions for variant NM_000019.4(ACAT1):c.1006-2A>C (rs145229472)

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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 RCV000002969 SCV000966104 pathogenic Deficiency of acetyl-CoA acetyltransferase 2019-05-05 criteria provided, single submitter research
Integrated Genetics/Laboratory Corporation of America RCV000002969 SCV000918381 pathogenic Deficiency of acetyl-CoA acetyltransferase 2018-01-02 criteria provided, single submitter clinical testing Variant summary: The ACAT1 c.1006-2A>C variant involves the alteration of a conserved intronic nucleotide. One in silico tool predicts a damaging outcome for this variant. 2/5 splicing predicting tools predict that this variant eliminates the 3' splicing acceptor site. This variant was found in 8/245964 control chromosomes at a frequency of 0.0000325, which does not exceed the estimated maximal expected allele frequency of a pathogenic ACAT1 variant (0.0028868). This variant has been reported in at least two patients in the compound heterozygous state (Fukao_2010). The brother of one of the patients has the same genotype, however, is asymptomatic at the age of 21.5, suggesting the variant of interest may associate with reduced penetrance or late onset of the disease (Grunert_2017). Functional studies showed this variant leads to skipping of exon 11 and a smaller protein product (Fukao_1992). In addition, one reputable database classified this variant as pathogenic. Taken together, this variant is classified as pathogenic.
OMIM RCV000002969 SCV000023127 pathogenic Deficiency of acetyl-CoA acetyltransferase 1992-02-01 no assertion criteria provided literature only

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