ClinVar Miner

Submissions for variant NM_000019.4(ACAT1):c.935T>C (p.Ile312Thr) (rs120074146)

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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 RCV000002978 SCV000966096 likely pathogenic Deficiency of acetyl-CoA acetyltransferase 2019-05-05 criteria provided, single submitter research
Invitae RCV000002978 SCV001586092 pathogenic Deficiency of acetyl-CoA acetyltransferase 2020-04-03 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 312 of the ACAT1 protein (p.Ile312Thr). The isoleucine residue is highly conserved and there is a moderate physicochemical difference between isoleucine and threonine. This variant is present in population databases (rs120074146, ExAC 0.01%). This variant has been observed in individual(s) with beta-ketothiolase deficiency (PMID: 9744475, 25559898, 14518824). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 2844). This variant has been reported to affect ACAT1 protein function (PMID: 9744475). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000002978 SCV000023136 pathogenic Deficiency of acetyl-CoA acetyltransferase 1998-01-01 no assertion criteria provided literature only

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