ClinVar Miner

Submissions for variant NM_000017.4(ACADS):c.1031A>G (p.Glu344Gly) (rs387906950)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000023586 SCV000220226 likely pathogenic Deficiency of butyryl-CoA dehydrogenase 2014-04-08 criteria provided, single submitter literature only
Fulgent Genetics,Fulgent Genetics RCV000023586 SCV000893278 pathogenic Deficiency of butyryl-CoA dehydrogenase 2018-10-31 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000023586 SCV001251674 likely pathogenic Deficiency of butyryl-CoA dehydrogenase 2020-05-03 criteria provided, single submitter clinical testing
Invitae RCV000023586 SCV001411472 pathogenic Deficiency of butyryl-CoA dehydrogenase 2019-08-02 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with glycine at codon 344 of the ACADS protein (p.Glu344Gly). The glutamic acid residue is highly conserved and there is a moderate physicochemical difference between glutamic acid and glycine. This variant is present in population databases (rs387906950, ExAC 0.1%). This variant has been observed in individuals with SCAD deficiency (PMID: 28532786, 21325261, 27938594, 29519241, 20376488, 27466294, 18523805). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 30612). This variant has been reported to affect ACADS protein function (PMID: 18523805, 20376488). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000023586 SCV000044877 pathogenic Deficiency of butyryl-CoA dehydrogenase 2010-06-01 no assertion criteria provided literature only

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