ClinVar Miner

Submissions for variant NM_000017.4(ACADS):c.307_309GAG[1] (p.Glu104del) (rs387906308)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000185702 SCV000238623 pathogenic not provided 2014-04-02 criteria provided, single submitter clinical testing The c.310_312delGAG mutation in the ACADS gene has been reported previously in association with short chain acyl-CoA dehydrogenase (SCAD) deficiency in an individual who also harbored the common G209S variant and in whom fibroblast SCAD activity was undetectable (Corydon et al., 2001). The deletion results in the loss of a single Glutamic Acid at codon 104, denoted p.Glu104del. The surrounding sequence GGAG{delGAG}ATCA. The variant is found in ACADS panel(s).
Invitae RCV000004037 SCV000632501 likely pathogenic Deficiency of butyryl-CoA dehydrogenase 2017-06-14 criteria provided, single submitter clinical testing This variant, c.310_312delGAG, results in the deletion of 1 amino acid of the ACADS protein (p.Glu104del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs751780151, ExAC 0.002%). This variant has been reported as homozygous and in combination with another ACADS variant in two individuals affected with short-chain acyl-CoA dehydrogenase) deficiency (PMID: 11134486, 26110041). ClinVar contains an entry for this variant (Variation ID: 3833). Experimental studies have shown that this missense change results in undetectable ACADS enzyme activity in vitro (PMID: 11134486). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000185702 SCV001248112 pathogenic not provided 2018-03-01 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001196495 SCV001367103 pathogenic Cystic hygroma; Bilateral talipes equinovarus; Congenital cystic adenomatoid malformation of the lung; Hydrops fetalis; Cleft palate 2019-02-20 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this varinat's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2. This variant was detected in hemizygous state.
OMIM RCV000004037 SCV000024203 pathogenic Deficiency of butyryl-CoA dehydrogenase 2001-01-01 no assertion criteria provided literature only
Counsyl RCV000004037 SCV001132114 pathogenic Deficiency of butyryl-CoA dehydrogenase 2019-01-24 no assertion criteria provided clinical testing

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