ClinVar Miner

Submissions for variant NC_000011.10:g.(?_108138888)_(108140225_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000813331 SCV000953689 pathogenic Deficiency of acetyl-CoA acetyltransferase 2021-06-24 criteria provided, single submitter clinical testing This variant is an out-of-frame deletion of the genomic region encompassing exons 6-7 of the ACAT1 gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with ACAT1-related disease. Loss-of-function variants in ACAT1 are known to be pathogenic (PMID: 7749408). For these reasons, this variant has been classified as Pathogenic.

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