ClinVar Miner

Submissions for variant NM_018328.4(MBD5):c.1327G>A (p.Val443Met) (rs137977565)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000229510 SCV000290457 uncertain significance Mental retardation, autosomal dominant 1 2016-01-01 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 443 of the MBD5 protein (p.Val443Met). The valine residue is highly conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs137977565, ExAC 0.02%). This variant has been reported in an individual affected with autism spectrum disorder (PMID: 23055267). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). In summary, this is a rare missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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