ClinVar Miner

Submissions for variant NM_018328.4(MBD5):c.2632C>A (p.Pro878Thr) (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 RCV000188099 SCV000241705 uncertain significance not provided 2013-12-03 criteria provided, single submitter clinical testing p.P878T:CCA>ACA:c.2632C>A in exon 10 of the MBD5 gene (NM_018328.4) The P878T missense change 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 variant is a non-conservative amino acid substitution of a non-polar Proline residue with a polar Threonine residue and the loss of a Proline may affect the secondary structure of MBD5 protein. In addition, P878T alters a position that is conserved across species. However, to our knowledge, only deletions and frameshift mutations in MBD5 have been published in association with epilepsy and in silico analysis is inconsistent with regard to the effect this variant may have on the protein structure/function. Therefore, based on the currently available information, it is unclear whether P878T is a disease-causing mutation or a rare benign variant. The variant is found in EPILEPSY panel(s).

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