ClinVar Miner

Submissions for variant NM_000019.4(ACAT1):c.248AAG[2] (p.Glu85del) (rs866364527)

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Total submissions: 2
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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 2019-12-30 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 not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with beta-ketothiolase deficiency (PMID: 7749408, 27928777). ClinVar contains an entry for this variant (Variation ID: 666470). This variant has been reported to affect ACAT1 protein 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.

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