ClinVar Miner

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

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001062107 SCV001226884 pathogenic Spinal muscular atrophy, distal, autosomal recessive, 5 2019-11-20 criteria provided, single submitter clinical testing 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 is not present in population databases (ExAC no frequency). 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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