ClinVar Miner

Submissions for variant NM_001540.5(HSPB1):c.532G>T (p.Glu178Ter) (rs150110356)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000535288 SCV000640216 likely pathogenic Charcot-Marie-Tooth disease axonal type 2F 2017-05-02 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the last exon of the HSPB1 mRNA at codon 178 (p.Glu178*). While this is not anticipated to result in nonsense mediated decay, it is expected to delete the last 28 amino acids of the HSPB1 protein. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a HSPB1-related disease. A different missense variant downstream of this variant (p.P182L) has been determined to be pathogenic (PMID: 15122254, 23728742, 28077174). This suggests that deletion of this region of the HSPB1 protein is causative of disease. In summary, this variant is a novel nonsense change that is expected to delete 28 amino acids of HSPB1 important for the protein function. This evidence indicates that the variant is pathogenic, but additional data is needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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