ClinVar Miner

Submissions for variant NM_001540.5(HSPB1):c.379C>A (p.Arg127=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001204305 SCV001375505 uncertain significance Charcot-Marie-Tooth disease axonal type 2F 2019-06-05 criteria provided, single submitter clinical testing This sequence change affects codon 127 of the HSPB1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the HSPB1 protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with hereditary motor neuropathy (PMID: 18832141). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing, but this prediction has not been confirmed by published transcriptional studies. 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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