ClinVar Miner

Submissions for variant NM_018328.4(MBD5):c.980T>C (p.Met327Thr) (rs776228346)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723968 SCV000233146 uncertain significance not provided 2014-06-06 criteria provided, single submitter clinical testing
GeneDx RCV000188077 SCV000241681 likely benign not specified 2016-01-11 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 RCV000696168 SCV000824717 uncertain significance Mental retardation, autosomal dominant 1 2018-04-27 criteria provided, single submitter clinical testing This sequence change replaces methionine with threonine at codon 327 of the MBD5 protein (p.Met327Thr). The methionine residue is highly conserved and there is a moderate physicochemical difference between methionine and threonine. This variant is present in population databases (rs776228346, ExAC 0.002%). This variant has not been reported in the literature in individuals with MBD5-related disease. ClinVar contains an entry for this variant (Variation ID: 199153). 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 C65"). 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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