ClinVar Miner

Submissions for variant NM_000019.4(ACAT1):c.1136G>T (p.Gly379Val) (rs120074143)

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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 RCV000002973 SCV000966118 likely pathogenic Deficiency of acetyl-CoA acetyltransferase 2019-05-05 criteria provided, single submitter research
Invitae RCV000002973 SCV001486268 uncertain significance Deficiency of acetyl-CoA acetyltransferase 2020-05-26 criteria provided, single submitter clinical testing This sequence change replaces glycine with valine at codon 379 of the ACAT1 protein (p.Gly379Val). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and valine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with beta-ketothiolase deficiency (PMID: 7907600). 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: 2839). This variant has been reported to affect ACAT1 protein function (PMID: 7749408). 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.
OMIM RCV000002973 SCV000023131 pathogenic Deficiency of acetyl-CoA acetyltransferase 1994-03-01 no assertion criteria provided literature only

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