ClinVar Miner

Submissions for variant NM_018328.4(MBD5):c.599G>A (p.Arg200Gln) (rs149278000)

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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 RCV000724572 SCV000233141 uncertain significance not provided 2018-07-27 criteria provided, single submitter clinical testing
Invitae RCV000468202 SCV000545120 uncertain significance Mental retardation, autosomal dominant 1 2018-07-11 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 200 of the MBD5 protein (p.Arg200Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs149278000, ExAC 0.04%), 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 MBD5-related disease. ClinVar contains an entry for this variant (Variation ID: 199148). 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: "Benign"; Align-GVGD: "Class C35"). 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.
GeneDx RCV000180662 SCV000617113 likely benign not specified 2017-12-04 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.
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000678818 SCV000805004 uncertain significance developmental delay with intractable seizures 2016-11-14 no assertion criteria provided clinical testing

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