ClinVar Miner

Submissions for variant NM_000019.4(ACAT1):c.749del (p.Val250fs)

gnomAD frequency: 0.00001  dbSNP: rs1565293957
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001381648 SCV001580131 pathogenic Deficiency of acetyl-CoA acetyltransferase 2023-09-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val250Glyfs*18) in the ACAT1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ACAT1 are known to be pathogenic (PMID: 7749408). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with ACAT1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1069705). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001381648 SCV004214677 likely pathogenic Deficiency of acetyl-CoA acetyltransferase 2023-04-27 criteria provided, single submitter clinical testing

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