ClinVar Miner

Submissions for variant NM_000019.4(ACAT1):c.571del (p.Ile191fs)

dbSNP: rs761038005
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001387582 SCV001588251 pathogenic Deficiency of acetyl-CoA acetyltransferase 2020-06-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in ACAT1 are known to be pathogenic (PMID: 7749408). This variant has not been reported in the literature in individuals with ACAT1-related conditions. This variant is present in population databases (rs761038005, ExAC 0.001%). This sequence change creates a premature translational stop signal (p.Ile191Phefs*14) in the ACAT1 gene. It is expected to result in an absent or disrupted protein product.
Fulgent Genetics, Fulgent Genetics RCV001387582 SCV002816643 likely pathogenic Deficiency of acetyl-CoA acetyltransferase 2022-02-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV001387582 SCV004214711 likely pathogenic Deficiency of acetyl-CoA acetyltransferase 2023-04-03 criteria provided, single submitter clinical testing

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