ClinVar Miner

Submissions for variant NM_014365.2(HSPB8):c.14A>G (p.Gln5Arg)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000687583 SCV000815159 uncertain significance Charcot-Marie-Tooth disease, type 2L 2018-07-05 criteria provided, single submitter clinical testing This sequence change replaces glutamine with arginine at codon 5 of the HSPB8 protein (p.Gln5Arg). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and arginine. This variant is present in population databases (rs146900850, ExAC 0.03%), and has an allele count higher than expected for a pathogenic variant (PMID: 28166811). 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: "Tolerated"; 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.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000761844 SCV000892048 uncertain significance not provided 2018-09-30 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763796 SCV000894710 uncertain significance Charcot-Marie-Tooth disease, type 2L; Distal hereditary motor neuronopathy type 2A 2018-10-31 criteria provided, single submitter clinical testing

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