ClinVar Miner

Submissions for variant NM_000017.4(ACADS):c.274G>T (p.Gly92Cys) (rs121908004)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000004031 SCV000963015 uncertain significance Deficiency of butyryl-CoA dehydrogenase 2018-10-12 criteria provided, single submitter clinical testing This sequence change replaces glycine with cysteine at codon 92 of the ACADS protein (p.Gly92Cys). The glycine residue is highly conserved and there is a large physicochemical difference between glycine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with short-chain acyl-coenzyme A dehydrogenase deficiency (PMID: 9499414). ClinVar contains an entry for this variant (Variation ID: 3827). Experimental studies have shown that this missense change causes severe protein misfolding and impairs enzyme activity (PMID: 9499414, 14506246). 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.
OMIM RCV000004031 SCV000024197 pathogenic Deficiency of butyryl-CoA dehydrogenase 1998-04-01 no assertion criteria provided literature only

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