ClinVar Miner

Submissions for variant NM_000019.4(ACAT1):c.163_167delinsAA (p.Phe55_Leu56delinsLys)

dbSNP: rs1591361995
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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 RCV000844773 SCV000966040 uncertain significance Deficiency of acetyl-CoA acetyltransferase 2019-05-05 criteria provided, single submitter research
Invitae RCV000844773 SCV001421431 likely pathogenic Deficiency of acetyl-CoA acetyltransferase 2023-05-20 criteria provided, single submitter clinical testing An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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. This variant has been observed in individual(s) with beta-ketothiolase deficiency (PMID: 20156697; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This variant, c.163_167delinsAA, is a complex sequence change that results in the deletion of 2 and insertion of 1 amino acid(s) in the ACAT1 protein (p.Phe55_Leu56delinsLys).

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