ClinVar Miner

Submissions for variant NM_014365.2(HSPB8):c.116C>T (p.Pro39Leu) (rs771827550)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000230666 SCV000289965 uncertain significance Charcot-Marie-Tooth disease, type 2L 2016-03-14 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 39 of the HSPB8 protein (p.Pro39Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs771827550, ExAC <0.01%). This variant has been reported in patients affected with distal hereditary motor neuropathy or Charcot-Marie-Tooth disease type 2 (PMID: 18832141, 22176143). Experimental studies have shown that this missense change affects the function of HSPB8 protein (PMID: 25965061). In summary, this variant is a rare missense change that has been observed in the general population as well as in patients. Experimental studies have shown that this variant disrupts protein function. However, further functional and genetic evidence is needed to conclusively establish its clinical relevance. For these reasons, this change has been classified as a Variant of Uncertain Significance.

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