ClinVar Miner

Submissions for variant NM_000019.4(ACAT1):c.248AAG[2] (p.Glu85del)

dbSNP: rs866364527
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pediatrics, Gifu University RCV000844775 SCV000966042 likely pathogenic Deficiency of acetyl-CoA acetyltransferase 2019-05-05 criteria provided, single submitter research
Invitae RCV000844775 SCV001222316 uncertain significance Deficiency of acetyl-CoA acetyltransferase 2022-02-18 criteria provided, single submitter clinical testing This variant, c.254_256del, results in the deletion of 1 amino acid(s) of the ACAT1 protein (p.Glu85del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has been observed in individuals with beta-ketothiolase deficiency (PMID: 7749408, 27928777). This variant is also known as c.253_255del, c.248_250del. ClinVar contains an entry for this variant (Variation ID: 666470). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that this variant affects ACAT1 function (PMID: 7749408). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Revvity Omics, Revvity RCV000844775 SCV002021276 likely pathogenic Deficiency of acetyl-CoA acetyltransferase 2019-12-28 criteria provided, single submitter clinical testing
Baylor Genetics RCV000844775 SCV004214611 likely pathogenic Deficiency of acetyl-CoA acetyltransferase 2023-06-17 criteria provided, single submitter clinical testing

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