ClinVar Miner

Submissions for variant NM_000017.4(ACADS):c.682G>A (p.Glu228Lys)

gnomAD frequency: 0.00001  dbSNP: rs755247580
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000664602 SCV000788595 uncertain significance Deficiency of butyryl-CoA dehydrogenase 2017-01-31 criteria provided, single submitter clinical testing
Invitae RCV000664602 SCV002179792 uncertain significance Deficiency of butyryl-CoA dehydrogenase 2022-02-03 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. 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) performed at Invitae indicates that this missense variant is expected to disrupt ACADS protein function. ClinVar contains an entry for this variant (Variation ID: 549997). This missense change has been observed in individual(s) with short chain acyl-CoA dehydrogenase deficiency (PMID: 27466294, 27938594). This variant is present in population databases (rs755247580, gnomAD 0.03%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 228 of the ACADS protein (p.Glu228Lys).

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