ClinVar Miner

Submissions for variant NM_001378120.1(MBD5):c.964G>C (p.Glu322Gln)

gnomAD frequency: 0.00001  dbSNP: rs760694122
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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 RCV001036233 SCV001199585 uncertain significance Intellectual disability, autosomal dominant 1 2019-11-25 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with glutamine at codon 322 of the MBD5 protein (p.Glu322Gln). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and glutamine. This variant is present in population databases (rs760694122, ExAC 0.003%). This variant has not been reported in the literature in individuals with MBD5-related conditions. 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 and their clinical significance is uncertain. 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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