ClinVar Miner

Submissions for variant NM_000017.4(ACADS):c.700C>T (p.Arg234Trp)

gnomAD frequency: 0.00003  dbSNP: rs532174593
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667477 SCV000791930 uncertain significance Deficiency of butyryl-CoA dehydrogenase 2017-06-01 criteria provided, single submitter clinical testing
Invitae RCV000667477 SCV003274186 uncertain significance Deficiency of butyryl-CoA dehydrogenase 2022-01-03 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 234 of the ACADS protein (p.Arg234Trp). This variant is present in population databases (rs532174593, gnomAD 0.02%). This missense change has been observed in individual(s) with short-chain acyl-coenzyme A dehydrogenase deficiency (PMID: 27051597). ClinVar contains an entry for this variant (Variation ID: 552250). 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. 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.

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