ClinVar Miner

Submissions for variant NM_000017.4(ACADS):c.625G>A (p.Gly209Ser)

gnomAD frequency: 0.20082  dbSNP: rs1799958
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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins NTD LLC (GA) RCV000077896 SCV000109725 benign not specified 2013-04-16 criteria provided, single submitter clinical testing
GeneDx RCV000185685 SCV000238606 benign not provided 2018-01-04 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Laboratory Services,Illumina RCV000004035 SCV000376683 benign Deficiency of butyryl-CoA dehydrogenase 2018-03-06 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000077896 SCV000746501 benign not specified 2019-01-01 criteria provided, single submitter clinical testing
Invitae RCV000004035 SCV000756747 benign Deficiency of butyryl-CoA dehydrogenase 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000004035 SCV001138838 likely benign Deficiency of butyryl-CoA dehydrogenase 2019-05-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000004035 SCV001156791 benign Deficiency of butyryl-CoA dehydrogenase 2022-01-18 criteria provided, single submitter clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV000004035 SCV002010900 benign Deficiency of butyryl-CoA dehydrogenase 2021-11-03 criteria provided, single submitter clinical testing
OMIM RCV000004035 SCV000024201 pathogenic Deficiency of butyryl-CoA dehydrogenase 2001-01-01 no assertion criteria provided literature only
GeneReviews RCV000004035 SCV000188414 likely pathogenic Deficiency of butyryl-CoA dehydrogenase 2014-08-07 no assertion criteria provided literature only
GenomeConnect, ClinGen RCV000004035 SCV000606903 not provided Deficiency of butyryl-CoA dehydrogenase no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
GenomeConnect - Invitae Patient Insights Network RCV000185685 SCV001749956 not provided not provided no assertion provided phenotyping only Variant interpreted as Benign and reported on 08-28-2020 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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