ClinVar Miner

Submissions for variant NM_000019.4(ACAT1):c.765A>T (p.Glu255Asp)

gnomAD frequency: 0.00002  dbSNP: rs794727893
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000180091 SCV000232460 uncertain significance not provided 2014-09-22 criteria provided, single submitter clinical testing
Department of Pediatrics, Gifu University RCV000844809 SCV000966084 uncertain significance Deficiency of acetyl-CoA acetyltransferase 2019-05-05 criteria provided, single submitter literature only
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003230437 SCV003928260 uncertain significance not specified 2023-04-26 criteria provided, single submitter clinical testing Variant summary: ACAT1 c.765A>T (p.Glu255Asp) results in a conservative amino acid change located in the Thiolase, N-terminal domain (IPR020616) of the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 4e-06 in 250938 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.765A>T has been reported in the literature in at least one compound heterozygous individual affected with Mitochondrial Acetoacetyl-CoA Thiolase Deficiency (Paquay_2017). These data do not allow any conclusion about variant significance. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication has been ascertained in the context of this evaluation (PMID: 28255778). One ClinVar submitter has assessed the variant since 2014: the variant was classified as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.
Baylor Genetics RCV000844809 SCV004212916 likely pathogenic Deficiency of acetyl-CoA acetyltransferase 2024-03-26 criteria provided, single submitter clinical testing

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