ClinVar Miner

Submissions for variant NM_000017.4(ACADS):c.326_328del (p.Cys109_Ala110delinsSer)

gnomAD frequency: 0.00001  dbSNP: rs1346829948
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667798 SCV000792302 uncertain significance Deficiency of butyryl-CoA dehydrogenase 2017-06-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000667798 SCV001518116 uncertain significance Deficiency of butyryl-CoA dehydrogenase 2020-09-07 criteria provided, single submitter clinical testing This variant, c.326_328del, is a complex sequence change that results in the deletion of 2 and insertion of 1 amino acid(s) in the ACADS protein (p.Cys109_Ala110delinsSer). The frequency data for this variant in the population databases is not available, as this variant may be reported as separate entries in the ExAC database. This variant has not been reported in the literature in individuals with ACADS-related conditions. ClinVar contains an entry for this variant (Variation ID: 552519). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
GeneDx RCV001547320 SCV001766991 likely pathogenic not provided 2019-11-05 criteria provided, single submitter clinical testing Deletion of three nucleotides at position c.326 of the ACADS gene results in the replacement of two normal amino acids with one incorrect amino acid in a non-repeat region predicted to critically alter the protein; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV000667798 SCV002033237 likely pathogenic Deficiency of butyryl-CoA dehydrogenase 2021-11-07 criteria provided, single submitter clinical testing

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