ClinVar Miner

Submissions for variant NM_014365.3(HSPB8):c.515del (p.Pro172fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001217241 SCV001389075 uncertain significance Charcot-Marie-Tooth disease, type 2L 2019-07-31 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the HSPB8 gene (p.Pro172Leufs*75). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 25 amino acids of the HSPB8 protein and extend the protein by an additional 49 amino acids. 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 conditions. 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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