Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000409035 | SCV000487194 | likely pathogenic | Isovaleryl-CoA dehydrogenase deficiency | 2016-10-24 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000409035 | SCV001230727 | pathogenic | Isovaleryl-CoA dehydrogenase deficiency | 2019-11-29 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Val38Glyfs*20) in the IVD gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with isovaleric acidemia (PMID: 27904153). ClinVar contains an entry for this variant (Variation ID: 371578). Loss-of-function variants in IVD are known to be pathogenic (PMID: 16602101). For these reasons, this variant has been classified as Pathogenic. |