ClinVar Miner

Submissions for variant NM_018328.4(MBD5):c.2399G>A (p.Gly800Asp) (rs201668347)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188096 SCV000241701 uncertain significance not provided 2016-08-25 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the MBD5 gene. The G800D variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, nor with any significant frequency in the 1000 Genomes Project. The G800D variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. However, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Additionally, to our knowledge, only loss-of-function pathogenic variants in MBD5 have been published in association with epilepsy. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Invitae RCV001080557 SCV000645791 benign Mental retardation, autosomal dominant 1 2019-12-31 criteria provided, single submitter clinical testing

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