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 uncertain significance Charcot-Marie-Tooth disease type 2F 2018-07-20 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 disease. Another truncation (p.Gln175*) that lies downstream of this variant have been reported in individuals affected with Charcot-Marie-Tooth disease (PMID: 28144995, 22734906) and in an individual affected with hereditary motor neuropathy (Invitae). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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