ClinVar Miner

Submissions for variant NM_000019.4(ACAT1):c.155T>C (p.Ile52Thr)

gnomAD frequency: 0.00001  dbSNP: rs151080188
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001103372 SCV001260125 uncertain significance Deficiency of acetyl-CoA acetyltransferase 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Invitae RCV001103372 SCV001419762 uncertain significance Deficiency of acetyl-CoA acetyltransferase 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 52 of the ACAT1 protein (p.Ile52Thr). The isoleucine residue is highly conserved and there is a moderate physicochemical difference between isoleucine and threonine. This variant is present in population databases (rs151080188, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with ACAT1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV001103372 SCV002785932 uncertain significance Deficiency of acetyl-CoA acetyltransferase 2021-10-08 criteria provided, single submitter clinical testing
Natera, Inc. RCV001103372 SCV002085785 uncertain significance Deficiency of acetyl-CoA acetyltransferase 2021-05-17 no assertion criteria provided clinical testing

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