ClinVar Miner

Submissions for variant NM_018328.4(MBD5):c.3063G>A (p.Met1021Ile)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000697225 SCV000825822 uncertain significance Mental retardation, autosomal dominant 1 2018-04-17 criteria provided, single submitter clinical testing This sequence change replaces methionine with isoleucine at codon 1021 of the MBD5 protein (p.Met1021Ile). The methionine residue is highly conserved and there is a small physicochemical difference between methionine and isoleucine. This variant is present in population databases (rs373991655, ExAC 0.01%). This variant has not been reported in the literature in individuals with MBD5-related disease. 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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