ClinVar Miner

Submissions for variant NM_001540.5(HSPB1):c.172del (p.Leu58fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001047621 SCV001211588 uncertain significance Charcot-Marie-Tooth disease axonal type 2F 2019-09-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu58Cysfs*52) in the HSPB1 gene. It is expected to result in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals with HSPB1-related conditions. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in HSPB1 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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