ClinVar Miner

Submissions for variant NM_018328.4(MBD5):c.2979G>C (p.Gln993His) (rs148321416)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188130 SCV000241737 likely benign not specified 2017-06-30 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV000312519 SCV000416706 uncertain significance Intellectual Disability, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000549124 SCV000645797 uncertain significance Mental retardation, autosomal dominant 1 2017-09-07 criteria provided, single submitter clinical testing This sequence change replaces glutamine with histidine at codon 993 of the MBD5 protein (p.Gln993His). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and histidine. This variant is present in population databases (rs148321416, 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 MBD5-related disease. ClinVar contains an entry for this variant (Variation ID: 206115). 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727202 SCV000706590 uncertain significance not provided 2017-03-14 criteria provided, single submitter clinical testing
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000678819 SCV000805005 uncertain significance Generalized tonic-clonic seizures 2017-04-03 criteria provided, single submitter clinical testing

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