ClinVar Miner

Submissions for variant NM_000019.4(ACAT1):c.64_72+10del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001045131 SCV001208965 likely pathogenic Deficiency of acetyl-CoA acetyltransferase 2019-05-07 criteria provided, single submitter clinical testing This variant is a deletion of the genomic region encompassing part of exon 1 (c.64_72+10del) of the ACAT1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with ACAT1-related conditions. Loss-of-function variants in ACAT1 are known to be pathogenic (PMID: 7749408). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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