ClinVar Miner

Submissions for variant NM_018328.4(MBD5):c.2279A>G (p.His760Arg) (rs763275881)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000719491 SCV000850358 uncertain significance History of neurodevelopmental disorder 2017-01-05 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000180660 SCV000233139 uncertain significance not provided 2015-04-21 criteria provided, single submitter clinical testing
Invitae RCV000529230 SCV000645790 uncertain significance Mental retardation, autosomal dominant 1 2018-11-07 criteria provided, single submitter clinical testing This sequence change replaces histidine with arginine at codon 760 of the MBD5 protein (p.His760Arg). The histidine residue is highly conserved and there is a small physicochemical difference between histidine and arginine. This variant is present in population databases (rs763275881, ExAC 0.03%), and has an allele count higher than expected for a pathogenic variant (PMID: 28166811). This variant has not been reported in the literature in individuals with an MBD5-related disease. ClinVar contains an entry for this variant (Variation ID: 199146). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25"). In summary, this variant has uncertain impact on MBD5 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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