ClinVar Miner

Submissions for variant NM_001540.5(HSPB1):c.1A>C (p.Met1Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001204090 SCV001375281 uncertain significance Charcot-Marie-Tooth disease axonal type 2F 2019-10-08 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 present in population databases (rs200190722, ExAC 0.09%). 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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