ClinVar Miner

Submissions for variant NM_018328.4(MBD5):c.1510A>G (p.Met504Val) (rs114251920)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000465911 SCV000545111 uncertain significance Mental retardation, autosomal dominant 1 2018-05-26 criteria provided, single submitter clinical testing This sequence change replaces methionine with valine at codon 504 of the MBD5 protein (p.Met504Val). The methionine residue is highly conserved and there is a small physicochemical difference between methionine and valine. This variant is present in population databases (rs114251920, ExAC 0.005%) but has not been reported in the literature in individuals with a MBD5-related disease. ClinVar contains an entry for this variant (Variation ID: 206071). 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 C15"). In summary, this variant is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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