ClinVar Miner

Submissions for variant NM_000019.4(ACAT1):c.949G>A (p.Asp317Asn)

gnomAD frequency: 0.00001  dbSNP: rs780486838
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pediatrics, Gifu University RCV000844823 SCV000966100 pathogenic Deficiency of acetyl-CoA acetyltransferase 2019-05-05 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV000844823 SCV001233383 pathogenic Deficiency of acetyl-CoA acetyltransferase 2024-02-22 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 317 of the ACAT1 protein (p.Asp317Asn). This variant is present in population databases (rs780486838, gnomAD 0.005%). This missense change has been observed in individual(s) with beta-ketothiolase deficiency (PMID: 27748876, 28689740, 29624230). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 666515). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on ACAT1 protein function. Experimental studies have shown that this missense change affects ACAT1 function (PMID: 27748876). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000844823 SCV004210442 pathogenic Deficiency of acetyl-CoA acetyltransferase 2023-11-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000844823 SCV005681160 pathogenic Deficiency of acetyl-CoA acetyltransferase 2024-04-22 criteria provided, single submitter clinical testing

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