ClinVar Miner

Submissions for variant NM_000019.4(ACAT1):c.1199A>G (p.His400Arg) (rs761086326)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics RCV000505498 SCV000599597 likely pathogenic Deficiency of acetyl-CoA acetyltransferase 2017-09-11 no assertion criteria provided clinical testing The variant c.1199A>G(p.H400R) is not reported in 1000 genomes database and has minor allele frequency of 0.0016% in ExAC database. The in silico prediction of this variant is damaging by LRT, PolyPhen, SIFT and MutationTaster.
Invitae RCV000505498 SCV000940586 uncertain significance Deficiency of acetyl-CoA acetyltransferase 2018-09-12 criteria provided, single submitter clinical testing This sequence change replaces histidine with arginine at codon 400 of the ACAT1 protein (p.His400Arg). The histidine residue is highly conserved and there is a small physicochemical difference between histidine and arginine. This variant is present in population databases (rs761086326, ExAC 0.01%). This variant has not been reported in the literature in individuals with ACAT1-related disease. ClinVar contains an entry for this variant (Variation ID: 438580). 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: "Possibly 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.

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