ClinVar Miner

Submissions for variant NM_000019.4(ACAT1):c.951C>T (p.Asp317=)

gnomAD frequency: 0.00003  dbSNP: rs747714452
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pediatrics, Gifu University RCV000844824 SCV000966101 pathogenic Deficiency of acetyl-CoA acetyltransferase 2019-05-05 criteria provided, single submitter research
Fulgent Genetics, Fulgent Genetics RCV000844824 SCV002812656 likely pathogenic Deficiency of acetyl-CoA acetyltransferase 2022-02-23 criteria provided, single submitter clinical testing
Baylor Genetics RCV000844824 SCV004210375 likely pathogenic Deficiency of acetyl-CoA acetyltransferase 2024-03-26 criteria provided, single submitter clinical testing

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