ClinVar Miner

Submissions for variant NM_001540.5(HSPB1):c.522_523delinsCT (p.Gln175Ter) (rs1060503021)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000468008 SCV000551567 likely pathogenic Charcot-Marie-Tooth disease axonal type 2F 2016-11-06 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 175 (p.Gln175*). While this is not anticipated to result in nonsense mediated decay, it is expected to delete the last 31 amino acids of the HSPB1 protein. This variant is not present in population databases (ExAC no frequency). A different variant (c.523C>T) giving rise to the same protein effect observed here (p.Gln175*) has been reported to segregate with Charcot-Marie-Tooth disease type 2 (CMT2) in an affected family (PMID: 22734906), indicating that the truncated residues may be critical for protein function. In summary, this is a novel truncating variant that is likely to disrupt HSPB1 protein function. However, additional data is needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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