Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Personalized Medicine, |
RCV000735291 | SCV000854444 | pathogenic | Pectus excavatum; Acute myeloid leukemia; Short stature; Cognitive impairment; Webbed neck; Pancytopenia; Abnormality of the tongue | criteria provided, single submitter | clinical testing | ||
Center for Personalized Medicine, |
RCV003156112 | SCV003845290 | pathogenic | See cases | 2022-12-21 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003768255 | SCV004630836 | pathogenic | not provided | 2023-12-09 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg182*) in the DNAJC21 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DNAJC21 are known to be pathogenic (PMID: 27346687, 28062395). This variant is present in population databases (rs771063992, gnomAD 0.008%). This premature translational stop signal has been observed in individual(s) with DNAJC21-related conditions (PMID: 30755392). ClinVar contains an entry for this variant (Variation ID: 598950). For these reasons, this variant has been classified as Pathogenic. |