ClinVar Miner

Submissions for variant NM_000017.4(ACADS):c.575C>T (p.Ala192Val) (rs28940874)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000004038 SCV000756745 uncertain significance Deficiency of butyryl-CoA dehydrogenase 2019-10-16 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 192 of the ACADS protein (p.Ala192Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs28940874, ExAC 0.008%). This variant has been reported as compound heterozygous in an individual affected with SCAD deficiency and neurological symptoms who also carried the homozygous c.625G>A variant (PMID: 11134486). In addition, it has been reported as heterozygous in two individuals who also carried the c.625G>A variant in the homozygous state (PMID: 16926354, 18523805). ClinVar contains an entry for this variant (Variation ID: 3834). Experimental studies have shown that this missense change disrupts ACADS enzymatic activity (PMID: 11134486). 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 RCV000004038 SCV000024204 pathogenic Deficiency of butyryl-CoA dehydrogenase 2001-01-01 no assertion criteria provided literature only

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