ClinVar Miner

Submissions for variant NM_000019.4(ACAT1):c.120+1G>C

gnomAD frequency: 0.00001  dbSNP: rs779908220
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002017830 SCV002306155 likely pathogenic Deficiency of acetyl-CoA acetyltransferase 2023-11-05 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 2 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 not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with clinical features of beta-ketothiolase deficiency (Invitae). ClinVar contains an entry for this variant (Variation ID: 1509341). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
Baylor Genetics RCV002017830 SCV004212872 likely pathogenic Deficiency of acetyl-CoA acetyltransferase 2024-01-01 criteria provided, single submitter clinical testing

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