ClinVar Miner

Submissions for variant NM_014384.3(ACAD8):c.173G>A (p.Arg58Gln)

gnomAD frequency: 0.00009  dbSNP: rs749474432
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002074127 SCV002321769 likely benign Deficiency of isobutyryl-CoA dehydrogenase 2022-10-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002541300 SCV003697536 uncertain significance Inborn genetic diseases 2022-01-26 criteria provided, single submitter clinical testing The c.173G>A (p.R58Q) alteration is located in exon 2 (coding exon 2) of the ACAD8 gene. This alteration results from a G to A substitution at nucleotide position 173, causing the arginine (R) at amino acid position 58 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001796943 SCV002037443 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001796943 SCV002037879 likely benign not provided no assertion criteria provided clinical testing

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