ClinVar Miner

Submissions for variant NM_018328.4(MBD5):c.4439G>A (p.Arg1480Lys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000707249 SCV000836339 uncertain significance Mental retardation, autosomal dominant 1 2018-02-07 criteria provided, single submitter clinical testing This sequence change replaces arginine with lysine at codon 1480 of the MBD5 protein (p.Arg1480Lys). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and lysine. This variant is not present in population databases (ExAC no frequency). 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"; 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.

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