ClinVar Miner

Submissions for variant NM_018328.4(MBD5):c.1141T>C (p.Phe381Leu) (rs768570356)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193393 SCV000247904 likely benign not specified 2014-10-17 criteria provided, single submitter clinical testing
GeneDx RCV000193393 SCV000728928 likely benign not specified 2017-08-14 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 RCV000697623 SCV000826244 uncertain significance Mental retardation, autosomal dominant 1 2018-02-27 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with leucine at codon 381 of the MBD5 protein (p.Phe381Leu). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and leucine. This variant is present in population databases (rs768570356, ExAC 0.03%). This variant has not been reported in the literature in individuals with MBD5-related disease. ClinVar contains an entry for this variant (Variation ID: 211435). 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, 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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