ClinVar Miner

Submissions for variant NM_006736.6(DNAJB2):c.89G>A (p.Trp30Ter)

dbSNP: rs1951895452
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001062107 SCV001226884 pathogenic Neuronopathy, distal hereditary motor, autosomal recessive 5 2020-01-17 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Trp30*) in the DNAJB2 gene. It is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with DNAJB2-related conditions. Loss-of-function variants in DNAJB2 are known to be pathogenic (PMID: 22522442, 25274842). For these reasons, this variant has been classified as Pathogenic.
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173145 SCV001336221 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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