ClinVar Miner

Submissions for variant NM_000019.4(ACAT1):c.622C>T (p.Arg208Ter) (rs532190594)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000434420 SCV000510705 pathogenic not provided 2017-01-05 criteria provided, single submitter clinical testing
Department of Pediatrics, Gifu University RCV000689417 SCV000966070 pathogenic Deficiency of acetyl-CoA acetyltransferase 2019-05-05 criteria provided, single submitter research
Invitae RCV000689417 SCV000817065 pathogenic Deficiency of acetyl-CoA acetyltransferase 2017-12-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg208*) in the ACAT1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs532190594, ExAC 0.01%). This variant has been reported in many families and individuals affected with acetoacetyl-CoA-thiolase deficiency (PMID: 28220263, 20156697) and is a common cause of disease in individuals of Vietnamese Kinh ancestry (PMID: 28220263). ClinVar contains an entry for this variant (Variation ID: 376832). Loss-of-function variants in ACAT1 are known to be pathogenic (PMID: 7749408). For these reasons, this variant has been classified as Pathogenic.

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