ClinVar Miner

Submissions for variant NM_001540.5(HSPB1):c.512del (p.Lys171fs) (rs1554614680)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000507012 SCV000603971 likely pathogenic not specified 2017-04-14 criteria provided, single submitter clinical testing
Invitae RCV000809593 SCV000949751 pathogenic Charcot-Marie-Tooth disease axonal type 2F 2019-08-02 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 been observed in individuals and families affected with Charcot-Marie-Tooth disease (Invitae). Variants that disrupt the region between p.Pro39 and p.Gln175 are associated with autosomal dominant HSPB1-related conditions (PMID: 22734906, 28144995, 29381233). As this variant disrupts this region, this suggests that it is likely to be clinically significant. For these reasons, this variant has been classified as Pathogenic.

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