ClinVar Miner

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

dbSNP: rs1318268067
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001045131 SCV001208965 pathogenic Deficiency of acetyl-CoA acetyltransferase 2024-01-28 criteria provided, single submitter clinical testing This variant results in the deletion of part of exon 1 (c.64_72+10del) of the ACAT1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in ACAT1 are known to be pathogenic (PMID: 7749408). This variant is present in population databases (no rsID available, gnomAD 0.03%). This variant has been observed in individual(s) with beta-ketothiolase deficiency (Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 842676). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001045131 SCV004210464 likely pathogenic Deficiency of acetyl-CoA acetyltransferase 2023-10-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV001045131 SCV002094716 likely pathogenic Deficiency of acetyl-CoA acetyltransferase 2020-09-02 no assertion criteria provided clinical testing

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