Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001869834 | SCV002195890 | pathogenic | not provided | 2022-03-04 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with DNAJC21-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln50*) 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). |
Center of Genomic Medicine, |
RCV001824280 | SCV002073732 | pathogenic | Bone marrow failure syndrome 3 | 2022-02-08 | no assertion criteria provided | clinical testing | This null variant has been observed in compound heterozigosity with another pathogenic variant in a patient with Bone marrow failure syndrome 3. PVS2 Very Strong: Null variant (nonsense), in gene DNAJC21 for which loss-of-function is a known mechanism of disease, associated with Bone marrow failure syndrome 3. PM2 Strong: Using strength Strong because the position is highly conserved (phyloP100way = 7.35 is greater than 7.2). Variant not found in gnomAD exomes. Variant not found in gnomAD genomes (good gnomAD genomes coverage = 31.1). PP3 Supporting: Pathogenic computational verdict based on 5 pathogenic predictions from BayesDel_addAF, DANN, EIGEN, FATHMM-MKL and MutationTaster vs no benign predictions. |