ClinVar Miner

Submissions for variant NM_014365.3(HSPB8):c.334del (p.Met111_Val112insTer)

dbSNP: rs1954624384
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001243225 SCV001416366 uncertain significance Charcot-Marie-Tooth disease axonal type 2L 2020-01-26 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with HSPB8-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Val112*) in the HSPB8 gene. It is expected to result in an absent or disrupted protein product. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in HSPB8 cause disease. 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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