ClinVar Miner

Submissions for variant NM_000017.4(ACADS):c.511C>T (p.Arg171Trp) (rs1800556)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000505959 SCV000602350 benign not specified 2016-03-28 criteria provided, single submitter clinical testing
GeneDx RCV000185683 SCV000238604 pathogenic not provided 2016-06-30 criteria provided, single submitter clinical testing The R171W missense change is a common gene variant that is considered to confer susceptibility for developing short chain acyl-CoA dehydrogenase (SCAD) deficiency when present with as yet unknown genetic or environmental factors (Corydon et al., 2001). The R171W variant is over represented in affected individuals, although it is also seen in homozygous or compound heterozygous form in healthy individuals and has been observed in the heterozygous form in approximately 3% of the US population (Nagan et al., 2003). Some patients with SCAD deficiency have the R171W variant on one allele and a pathogenic variant on the opposite ACADS allele.
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 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.
Illumina Clinical Services Laboratory,Illumina RCV000004034 SCV000376679 likely benign Deficiency of butyryl-CoA dehydrogenase 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000004034 SCV000632508 benign Deficiency of butyryl-CoA dehydrogenase 2019-01-03 criteria provided, single submitter clinical testing
OMIM RCV000004034 SCV000024200 pathogenic Deficiency of butyryl-CoA dehydrogenase 2001-01-01 no assertion criteria provided literature only

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