ClinVar Miner

Submissions for variant NM_018328.4(MBD5):c.274G>A (p.Ala92Thr) (rs770801894)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000717704 SCV000848562 uncertain significance History of neurodevelopmental disorder 2016-12-20 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Illumina Clinical Services Laboratory,Illumina RCV000370056 SCV000416687 uncertain significance Intellectual Disability, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000645258 SCV000767000 uncertain significance Mental retardation, autosomal dominant 1 2018-09-13 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 92 of the MBD5 protein (p.Ala92Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (rs770801894, ExAC 0.009%). This variant has not been reported in the literature in individuals with MBD5-related disease. ClinVar contains an entry for this variant (Variation ID: 331331). 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 and their clinical significance is uncertain. 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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