Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Revvity Omics, |
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 |