ClinVar Miner

Submissions for variant NM_000117.2(EMD):c.646G>A (p.Gly216Arg) (rs147920229)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000732781 SCV000860767 uncertain significance not provided 2018-04-16 criteria provided, single submitter clinical testing
GeneDx RCV000035111 SCV000714790 likely benign not specified 2017-09-12 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000638219 SCV000759705 uncertain significance Emery-Dreifuss muscular dystrophy 1, X-linked 2018-03-22 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 216 of the EMD protein (p.Gly216Arg). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs147920229, ExAC 0.1%), 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 EMD-related disease. ClinVar contains an entry for this variant (Variation ID: 42278). 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"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035111 SCV000058751 uncertain significance not specified 2009-05-29 no assertion criteria provided clinical testing

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