ClinVar Miner

Submissions for variant NM_000017.4(ACADS):c.511C>T (p.Arg171Trp)

gnomAD frequency: 0.03286  dbSNP: rs1800556
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000185683 SCV000238604 benign not provided 2018-01-04 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 29555771, 29678161, 28532786, 18523805, 9499414, 11134486, 16926354, 12220177)
Illumina Laboratory Services,Illumina RCV000004034 SCV000376679 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.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000004034 SCV000602350 benign Deficiency of butyryl-CoA dehydrogenase 2022-01-18 criteria provided, single submitter clinical testing
Invitae RCV000004034 SCV000632508 benign Deficiency of butyryl-CoA dehydrogenase 2019-12-30 criteria provided, single submitter clinical testing
Mendelics RCV000004034 SCV001138837 uncertain significance Deficiency of butyryl-CoA dehydrogenase 2019-05-28 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000004034 SCV002033243 benign Deficiency of butyryl-CoA dehydrogenase 2021-11-07 criteria provided, single submitter clinical testing
OMIM RCV000004034 SCV000024200 pathogenic Deficiency of butyryl-CoA dehydrogenase 2001-01-01 no assertion criteria provided literature only
GeneReviews RCV000004034 SCV000188413 likely pathogenic Deficiency of butyryl-CoA dehydrogenase 2014-08-07 no assertion criteria provided literature only
GenomeConnect, ClinGen RCV000004034 SCV000606902 not provided Deficiency of butyryl-CoA dehydrogenase no assertion provided phenotyping only The variant was identified in multiple GenomeConnect participants. Variant interpreted as Uncertain significance and reported on 05-17-2017 by Lab or GTR ID 303161. Variant was interpreted as Pathogenic and reported on 10-02-2015 by Lab or GTR ID 26957. 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.

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