ClinVar Miner

Submissions for variant NM_014365.2(HSPB8):c.201C>T (p.Gly67=) (rs1565927038)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000686245 SCV000813755 uncertain significance Charcot-Marie-Tooth disease, type 2L 2018-04-11 criteria provided, single submitter clinical testing This sequence change affects codon 67 of the HSPB8 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the HSPB8 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with HSPB8-related disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, 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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