ClinVar Miner

Submissions for variant NM_018328.4(MBD5):c.2724C>G (p.Asn908Lys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000799680 SCV000939355 uncertain significance Mental retardation, autosomal dominant 1 2018-09-07 criteria provided, single submitter clinical testing This sequence change replaces asparagine with lysine at codon 908 of the MBD5 protein (p.Asn908Lys). The asparagine residue is highly conserved and there is a moderate physicochemical difference between asparagine and lysine. This variant is not present in population databases (ExAC no frequency). 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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