ClinVar Miner

Submissions for variant NM_001540.5(HSPB1):c.3G>A (p.Met1Ile)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001202462 SCV001373575 uncertain significance Charcot-Marie-Tooth disease axonal type 2F 2019-05-23 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the HSPB1 mRNA. The next in-frame methionine is located at codon 169. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with HSPB1-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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