ClinVar Miner

Submissions for variant NM_006308.3(HSPB3):c.271G>A (p.Glu91Lys)

gnomAD frequency: 0.00023  dbSNP: rs147724326
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000541937 SCV000649984 uncertain significance Neuronopathy, distal hereditary motor, type 2C 2021-11-02 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 91 of the HSPB3 protein (p.Glu91Lys). This variant is present in population databases (rs147724326, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with HSPB3-related conditions. ClinVar contains an entry for this variant (Variation ID: 471413). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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.
Eurofins Ntd Llc (ga) RCV000592139 SCV000704756 uncertain significance not provided 2016-12-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000541937 SCV001318760 benign Neuronopathy, distal hereditary motor, type 2C 2017-05-15 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.

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