ClinVar Miner

Submissions for variant NM_001540.5(HSPB1):c.383A>G (p.Gln128Arg) (rs558882005)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000407625 SCV000470064 uncertain significance Charcot-Marie-Tooth disease, type 2 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000311362 SCV000470065 uncertain significance Distal hereditary motor neuronopathy 2016-06-14 criteria provided, single submitter clinical testing
Biochimie - Maladies Neurologiques Hereditaires,Hospices Civils de Lyon RCV000678497 SCV000804564 likely pathogenic Distal hereditary motor neuronopathy type 2B 2017-02-02 criteria provided, single submitter clinical testing
Invitae RCV000705379 SCV000834372 uncertain significance Charcot-Marie-Tooth disease type 2F 2018-06-22 criteria provided, single submitter clinical testing This sequence change replaces glutamine with arginine at codon 128 of the HSPB1 protein (p.Gln128Arg). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and arginine. This variant is present in population databases (rs558882005, ExAC 0.02%). This variant has been observed in an individual with distal hereditary motor neuropathy (PMID: 28144995). ClinVar contains an entry for this variant (Variation ID: 360738). Experimental studies have shown that this missense change causes hyperphosphorylation of neurofilaments in vitro (PMID: 28144995). 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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