ClinVar Miner

Submissions for variant NM_000017.4(ACADS):c.989G>A (p.Arg330His)

gnomAD frequency: 0.00009  dbSNP: rs199633532
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673525 SCV000798737 uncertain significance Deficiency of butyryl-CoA dehydrogenase 2018-03-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000673525 SCV002231966 pathogenic Deficiency of butyryl-CoA dehydrogenase 2023-03-04 criteria provided, single submitter clinical testing 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 ACADS protein function. For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Arg330 amino acid residue in ACADS. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 16926354, 18676165; Invitae). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 557389). This missense change has been observed in individuals with short-chain acyl-coenzyme A dehydrogenase deficiency (PMID: 16926354, 26274329; Invitae). This variant is present in population databases (rs199633532, gnomAD 0.02%). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 330 of the ACADS protein (p.Arg330His).
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV000673525 SCV005051733 pathogenic Deficiency of butyryl-CoA dehydrogenase 2024-02-01 criteria provided, single submitter curation
Neonatal Disease Screening Center, Medical Genetics Center, Huaihua City Maternal and Child Health Care Hospital RCV000673525 SCV004800889 pathogenic Deficiency of butyryl-CoA dehydrogenase no assertion criteria provided clinical testing PM2_P+PM3_VS+PP1+PP3+PP4

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