ClinVar Miner

Submissions for variant NM_018328.4(MBD5):c.2632C>G (p.Pro878Ala) (rs752535474)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188129 SCV000241736 uncertain significance not provided 2015-10-31 criteria provided, single submitter clinical testing p.Pro878Ala (CCA>GCA): c.2632 C>G in exon 10 of the MBD5 gene (NM_018328.4) The P878A variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This substitution occurs at a position that is conserved across mammals; however, missense mutations in nearby residues have not been reported in association with epilepsy. Additionally, the P878A variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret P878A as a variant of uncertain significance.The variant is found in EPILEPSY panel(s).

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