ClinVar Miner

Submissions for variant NM_000017.4(ACADS):c.596C>T (p.Ala199Val)

gnomAD frequency: 0.00001  dbSNP: rs766579880
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV000761220 SCV000891174 likely pathogenic Deficiency of butyryl-CoA dehydrogenase 2017-12-15 criteria provided, single submitter clinical testing
Invitae RCV000761220 SCV000960558 uncertain significance Deficiency of butyryl-CoA dehydrogenase 2021-09-08 criteria provided, single submitter clinical testing
GeneDx RCV001551168 SCV001771617 likely pathogenic not provided 2020-07-13 criteria provided, single submitter clinical testing Reported in association with SCAD deficiency in individuals with failure to thrive, feeding difficulties and hypotonia who were compound heterozygous for the G209S variant (Pedersen et al., 2008); In vitro functional studies demonstrated A199V had a damaging effect on SCAD protein. Functional studies with complex allele including A199V and G209S caused a severe effect (Pedersen et al., 2008); Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 31980526, 28263315, 18523805)
Genome-Nilou Lab RCV000761220 SCV002033245 likely pathogenic Deficiency of butyryl-CoA dehydrogenase 2021-11-07 criteria provided, single submitter clinical testing

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