ClinVar Miner

Submissions for variant NM_001540.5(HSPB1):c.510del (p.Lys171fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001227212 SCV001399559 pathogenic Charcot-Marie-Tooth disease axonal type 2F 2019-10-02 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the HSPB1 gene (p.Lys171Serfs*2). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 35 amino acids of the HSPB1 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with HSPB1-related conditions. This variant disrupts the region of the HSPB1 protein between p.Pro39 and p.Gln175. This region has been determined to be associated with autosomal dominant HSPB1-related conditions (PMID: 22734906, 28144995, 29381233), which suggests that variants that occur in this region are likely to be clinically significant. For these reasons, this variant has been classified as Pathogenic.
Institute of Human Genetics, University of Leipzig Medical Center RCV001253252 SCV001428874 likely pathogenic Distal hereditary motor neuronopathy type 2B 2018-07-30 criteria provided, single submitter clinical testing

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