ClinVar Miner

Submissions for variant NM_000019.4(ACAT1):c.52dup (p.Leu18fs) (rs1476273214)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000780811 SCV000918382 pathogenic Deficiency of acetyl-CoA acetyltransferase 2017-12-18 criteria provided, single submitter clinical testing Variant summary: The ACAT1 c.52dupC (p.Leu18ProfsX49) variant results in a premature termination codon, predicted to cause a truncated or absent ACAT1 protein due to nonsense mediated decay, which are commonly known mechanisms for disease. One in silico tool predicts a damaging outcome for this variant. This variant was found in 3/142878 control chromosomes at a frequency of 0.000021, which does not exceed the estimated maximal expected allele frequency of a pathogenic ACAT1 variant (0.0028868). It has been reported in multiple affected individuals as compound heterozygotes, and pts fibroblast cells showed <15% of WT Enzyme activity (Zhang_2004, Saragoglou_2011, and paquay_ACAT1_JIMD_2017). Taken together, this variant is classified as pathogenic.
Department of Pediatrics, Gifu University RCV000780811 SCV000966032 pathogenic Deficiency of acetyl-CoA acetyltransferase 2019-05-05 criteria provided, single submitter research

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