ClinVar Miner

Submissions for variant NM_018328.4(MBD5):c.2645A>T (p.Gln882Leu) (rs151173122)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188100 SCV000241706 uncertain significance not provided 2017-12-05 criteria provided, single submitter clinical testing p.Gln882Leu (Q882L) CAG>CTG: c.2645 A>T in exon 10 of the MBD5 gene (NM_018328.4)The Q882L variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The Q882L variant was not observed with any significant frequency in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. The Q882L 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. In addition, in silico analysis predicts this variant is probably damaging to the protein structure/function and this substitution occurs at a position that is conserved in mammals. However, missense mutations have not been previously reported in this region of the MBD5 protein in association with MBD5-related disorders. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in RETT-EPI panel(s).

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