ClinVar Miner

Submissions for variant NM_018328.4(MBD5):c.1304C>T (p.Ser435Phe) (rs768225923)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000526194 SCV000645778 uncertain significance Mental retardation, autosomal dominant 1 2017-05-16 criteria provided, single submitter clinical testing This sequence change replaces serine with phenylalanine at codon 435 of the MBD5 protein (p.Ser435Phe). The serine residue is highly conserved and there is a large physicochemical difference between serine and phenylalanine. This variant is present in population databases (rs768225923, ExAC 0.005%) but 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. 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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