ClinVar Miner

Submissions for variant NM_000019.4(ACAT1):c.375_376del (p.Ala127fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002781120 SCV003031052 pathogenic Deficiency of acetyl-CoA acetyltransferase 2023-08-14 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1988079). This variant has not been reported in the literature in individuals affected with ACAT1-related conditions. This variant is present in population databases (rs774418317, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Ala127Phefs*49) 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).

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