ClinVar Miner

Submissions for variant NM_001540.5(HSPB1):c.29T>A (p.Leu10His) (rs772216758)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000559511 SCV000640209 uncertain significance Charcot-Marie-Tooth disease type 2F 2018-09-11 criteria provided, single submitter clinical testing This sequence change replaces leucine with histidine at codon 10 of the HSPB1 protein (p.Leu10His). The leucine residue is moderately conserved and there is a moderate physicochemical difference between leucine and histidine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with an HSPB1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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