ClinVar Miner

Submissions for variant NM_001540.5(HSPB1):c.438dup (p.Gly147fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV001171990 SCV001334914 likely pathogenic not provided 2020-03-01 criteria provided, single submitter clinical testing
Invitae RCV001205400 SCV001376654 pathogenic Charcot-Marie-Tooth disease axonal type 2F 2020-08-25 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the HSPB1 gene (p.Gly147Argfs*14). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 59 amino acids of the HSPB1 protein. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. 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.Pro182. This region has been determined to be associated with autosomal dominant HSPB1-related conditions (PMID: 28144995, 29381233, 22734906), 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.

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