ClinVar Miner

Submissions for variant NM_018328.4(MBD5):c.796A>G (p.Ile266Val) (rs568826753)

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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 RCV000724600 SCV000233140 uncertain significance not provided 2015-03-06 criteria provided, single submitter clinical testing
GeneDx RCV000188072 SCV000241676 likely benign not specified 2016-07-13 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 RCV000472743 SCV000545118 uncertain significance Mental retardation, autosomal dominant 1 2016-11-27 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 266 of the MBD5 protein (p.Ile266Val). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and valine. This variant is present in population databases (rs568826753, ExAC 0.02%) but has not been reported in the literature in individuals with a MBD5-related disease. ClinVar contains an entry for this variant (Variation ID: 199147). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25"). The valine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies. In summary, this variant is a rare missense change that is not predicted to affect protein function, and is found in the population at an appreciable frequency. This variant is not anticipated to cause disease; however, the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
Genetic Services Laboratory, University of Chicago RCV000188072 SCV000595708 likely benign not specified 2017-01-03 criteria provided, single submitter clinical testing

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