Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000546725 | SCV000631877 | pathogenic | Isovaleryl-CoA dehydrogenase deficiency | 2019-12-24 | criteria provided, single submitter | clinical testing | This sequence change deletes 1 nucleotide from exon 4 of the IVD mRNA (c.390delT), causing a frameshift at codon 131. This creates a premature translational stop signal (p.Ala131Profs*26) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss of function variants in IVD are known to be pathogenic (PMID: 23587913, 10677295). For these reasons, this variant has been classified as Pathogenic. |
Counsyl | RCV000546725 | SCV001132237 | likely pathogenic | Isovaleryl-CoA dehydrogenase deficiency | 2014-10-20 | no assertion criteria provided | clinical testing |