Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001231277 | SCV001403792 | pathogenic | 3-methylglutaconic aciduria type 5 | 2022-08-27 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 958162). This premature translational stop signal has been observed in individual(s) with clinical features of 3-methylglutaconic aciduria type V (PMID: 29625556). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Phe17Leufs*10) in the DNAJC19 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DNAJC19 are known to be pathogenic (PMID: 16055927, 27928778). |