ClinVar Miner

Submissions for variant NM_018328.4(MBD5):c.3902T>C (p.Phe1301Ser) (rs755983540)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000555521 SCV000645806 uncertain significance Mental retardation, autosomal dominant 1 2017-06-01 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with serine at codon 1301 of the MBD5 protein (p.Phe1301Ser). The phenylalanine residue is highly conserved and there is a large physicochemical difference between phenylalanine and serine. This variant is present in population databases (rs755983540, ExAC 0.009%). This variant has not been reported in the literature in individuals with an MBD5-related disease. 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, this variant has uncertain impact on MBD5 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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