ClinVar Miner

Submissions for variant NM_018328.4(MBD5):c.1198G>A (p.Val400Ile) (rs377568191)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000645278 SCV000767020 uncertain significance Mental retardation, autosomal dominant 1 2017-10-19 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 400 of the MBD5 protein (p.Val400Ile). The valine residue is highly conserved and there is a small physicochemical difference between valine and isoleucine. This variant is present in population databases (rs377568191, ExAC 0.01%). This variant has not been reported in the literature in individuals with MBD5-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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25"). 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000734464 SCV000862609 uncertain significance not provided 2018-07-25 criteria provided, single submitter clinical testing

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