ClinVar Miner

Submissions for variant NM_018328.4(MBD5):c.3355G>T (p.Ala1119Ser) (rs373177231)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188132 SCV000241739 likely benign not specified 2017-05-19 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 RCV000461798 SCV000545108 uncertain significance Mental retardation, autosomal dominant 1 2018-07-30 criteria provided, single submitter clinical testing This sequence change replaces alanine with serine at codon 1119 of the MBD5 protein (p.Ala1119Ser). The alanine residue is highly conserved and there is a moderate physicochemical difference between alanine and serine. This variant is present in population databases (rs373177231, ExAC 0.02%) but has not been reported in the literature in individuals with a MBD5-related disease. ClinVar contains an entry for this variant (Variation ID: 206116). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies. 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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