ClinVar Miner

Submissions for variant NC_000011.9:g.(?_108010782)_(108012437_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001958946 SCV002243793 pathogenic Deficiency of acetyl-CoA acetyltransferase 2021-06-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with ACAT1-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 7-8 of the ACAT1 gene. This deletion is out-of-frame, and is expected to create a premature translational stop signal and result in an absent or disrupted protein product. Loss-of-function variants in ACAT1 are known to be pathogenic (PMID: 7749408).

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