ClinVar Miner

Submissions for variant NM_018328.4(MBD5):c.205A>G (p.Ile69Val) (rs749163361)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000767156 SCV000241670 uncertain significance not provided 2014-06-06 criteria provided, single submitter clinical testing p.Ile69Val (ATT>GTT): c.205 A>G in exon 7 of the MBD5 gene (NM_018328.4) The I69V 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. However, the I69V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Additionally, this substitution occurs at a position that is not conserved with Valine observed at this position in multiple species, and in silico analysis predicts this variant likely does not alter the protein structure/function. To our knowledge, only deletions and frameshift mutations in MBD5 have been published in association with epilepsy. The variant is found in EPILEPSY panel(s).
Genetic Services Laboratory, University of Chicago RCV000188066 SCV000595706 likely benign not specified 2017-02-06 criteria provided, single submitter clinical testing

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