Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000161908 | SCV004293979 | pathogenic | Neuronopathy, distal hereditary motor, autosomal recessive 5 | 2022-12-23 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Studies have shown that disruption of this splice site results in retention of intron 4 causing a premature stop codon and introduces a premature termination codon (PMID: 25274842). The resulting mRNA is expected to undergo nonsense-mediated decay. ClinVar contains an entry for this variant (Variation ID: 183041). Disruption of this splice site has been observed in individual(s) with clinical features of DNAJB2-related conditions (PMID: 25274842). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 4 of the DNAJB2 gene. RNA analysis indicates that disruption of this splice site induces altered splicing and may result in an absent or disrupted protein product. |
OMIM | RCV000161908 | SCV000211938 | pathogenic | Neuronopathy, distal hereditary motor, autosomal recessive 5 | 2014-11-04 | no assertion criteria provided | literature only | |
Inherited Neuropathy Consortium | RCV000192265 | SCV000928438 | uncertain significance | Charcot-Marie-Tooth disease | no assertion criteria provided | literature only | ||
Inherited Neuropathy Consortium Ii, |
RCV003447120 | SCV004174599 | uncertain significance | Autosomal recessive distal spinal muscular atrophy 2 | 2016-01-06 | no assertion criteria provided | literature only |