ClinVar Miner

Submissions for variant NM_000019.4(ACAT1):c.1032AGA[1] (p.Glu345del) (rs387906282)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pediatrics, Gifu University RCV000002975 SCV000966111 likely pathogenic Deficiency of acetyl-CoA acetyltransferase 2019-05-05 criteria provided, single submitter research
Invitae RCV000002975 SCV001222617 likely pathogenic Deficiency of acetyl-CoA acetyltransferase 2020-09-27 criteria provided, single submitter clinical testing This variant, c.1035_1037del, results in the deletion of 1 amino acid(s) of the ACAT1 protein (p.Glu345del), 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: 9700610, 31240151). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. This variant is also known as 1033GAAdel in the literature. ClinVar contains an entry for this variant (Variation ID: 2841). This variant has been reported to have insufficient data to determine the effect on ACAT1 protein function (PMID: 31240151). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
OMIM RCV000002975 SCV000023133 pathogenic Deficiency of acetyl-CoA acetyltransferase 1998-06-01 no assertion criteria provided literature only

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