ClinVar Miner

Submissions for variant NM_001378120.1(MBD5):c.3583C>A (p.Gln1195Lys)

dbSNP: rs1200329763
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000699513 SCV000828228 uncertain significance Intellectual disability, autosomal dominant 1 2018-07-30 criteria provided, single submitter clinical testing 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. 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. This variant has not been reported in the literature in individuals with MBD5-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamine with lysine at codon 962 of the MBD5 protein (p.Gln962Lys). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and lysine.
GeneDx RCV001756221 SCV001987095 uncertain significance not provided 2019-06-11 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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