ClinVar Miner

Submissions for variant NM_001540.5(HSPB1):c.372C>G (p.His124Gln) (rs145243219)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000558321 SCV000640212 uncertain significance Charcot-Marie-Tooth disease axonal type 2F 2019-11-27 criteria provided, single submitter clinical testing This sequence change replaces histidine with glutamine at codon 124 of the HSPB1 protein (p.His124Gln). The histidine residue is highly conserved and there is a small physicochemical difference between histidine and glutamine. This variant is present in population databases (rs145243219, ExAC 0.008%). This variant has not been reported in the literature in individuals with 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: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). 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.
Athena Diagnostics Inc RCV000711974 SCV000842385 uncertain significance not provided 2018-01-25 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001172546 SCV001335607 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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