ClinVar Miner

Submissions for variant NM_018328.4(MBD5):c.3494G>A (p.Arg1165Gln) (rs727503999)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000153459 SCV000202966 uncertain significance not provided 2014-01-15 criteria provided, single submitter clinical testing
Invitae RCV000685577 SCV000813062 uncertain significance Mental retardation, autosomal dominant 1 2018-08-25 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 1165 of the MBD5 protein (p.Arg1165Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs727503999, ExAC 0.001%). This variant has not been reported in the literature in individuals with MBD5-related disease. ClinVar contains an entry for this variant (Variation ID: 167265). 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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