ClinVar Miner

Submissions for variant NM_000019.4(ACAT1):c.163_167delinsAA (p.Phe55_Leu56delinsLys) (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 2019-12-19 criteria provided, single submitter clinical testing This variant, c.163_167delinsAA, is a complex sequence change that results in the deletion of 2 and insertion of 1 amino acids in the ACAT1 protein (p.Leu56Lys). This variant is not present in population databases (ExAC no frequency). 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 the variant being in trans (on the opposite chromosome) from a pathogenic variant. Experimental studies and prediction algorithms are not available or were not evaluated for this variant, and the functional significance of this variant is currently unknown. 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.

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