ClinVar Miner

Submissions for variant NM_014365.2(HSPB8):c.164G>A (p.Arg55His) (rs752911264)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000691399 SCV000819176 uncertain significance Charcot-Marie-Tooth disease, type 2L 2018-02-08 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 55 of the HSPB8 protein (p.Arg55His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs752911264, ExAC 0.002%). This variant has not been reported in the literature in individuals with HSPB8-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: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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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