ClinVar Miner

Submissions for variant NM_000019.4(ACAT1):c.997G>C (p.Ala333Pro) (rs120074147)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000002979 SCV000746954 pathogenic Deficiency of acetyl-CoA acetyltransferase 2017-12-18 criteria provided, single submitter clinical testing
Department of Pediatrics, Gifu University RCV000002979 SCV000966103 likely pathogenic Deficiency of acetyl-CoA acetyltransferase 2019-05-05 criteria provided, single submitter research
Invitae RCV000002979 SCV001236935 pathogenic Deficiency of acetyl-CoA acetyltransferase 2019-04-25 criteria provided, single submitter clinical testing This sequence change replaces alanine with proline at codon 333 of the ACAT1 protein (p.Ala333Pro). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and proline. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with beta-ketothiolase deficiency (PMID: 9744475, 28875337, Invitae). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 2845). This variant has been reported to affect ACAT1 protein function (PMID: 7749408). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000002979 SCV000023137 pathogenic Deficiency of acetyl-CoA acetyltransferase 1998-01-01 no assertion criteria provided literature only

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