ClinVar Miner

Submissions for variant NM_001540.5(HSPB1):c.476_477del (p.Pro159fs)

gnomAD frequency: 0.00001  dbSNP: rs1240900244
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001784403 SCV002016645 likely pathogenic not provided 2019-06-08 criteria provided, single submitter clinical testing
Invitae RCV003507314 SCV004294471 pathogenic Charcot-Marie-Tooth disease axonal type 2F 2023-02-15 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with clinical features of HSPB1-related neuropathies (PMID: 19435728, 22176143, 33686258). ClinVar contains an entry for this variant (Variation ID: 637688). This variant disrupts the region of the HSPB1 protein between codon 39 and 182. Other variants in this region have been observed in individuals with autosomal dominant HSPB1-related conditions (PMID: 22734906, 28144995, 29381233), which suggests that this may be a clinically significant region of the protein. For these reasons, this variant has been classified as Pathogenic. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Pro159Argfs*42) in the HSPB1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 47 amino acid(s) of the HSPB1 protein.
Inherited Neuropathy Consortium RCV000789963 SCV000929348 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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