ClinVar Miner

Submissions for variant NM_001378120.1(MBD5):c.4313G>T (p.Gly1438Val)

dbSNP: rs1559099144
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000698554 SCV000827224 uncertain significance Intellectual disability, autosomal dominant 1 2018-09-20 criteria provided, single submitter clinical testing This sequence change replaces glycine with valine at codon 1205 of the MBD5 protein (p.Gly1205Val). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and valine. 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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