ClinVar Miner

Submissions for variant NM_018328.4(MBD5):c.3253G>A (p.Val1085Ile) (rs199626531)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000281915 SCV000329413 uncertain significance not provided 2017-08-04 criteria provided, single submitter clinical testing The V1085I variant in the MBD5 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The V1085I variant was not observed at any significant frequency 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. The V1085I variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret V1085I as a variant of uncertain significance.
Illumina Clinical Services Laboratory,Illumina RCV000354473 SCV000416710 uncertain significance Intellectual Disability, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000471099 SCV000545109 benign Mental retardation, autosomal dominant 1 2019-08-23 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000471099 SCV000898816 uncertain significance Mental retardation, autosomal dominant 1 2018-08-16 criteria provided, single submitter clinical testing MBD5 NM_018328.4 exon 12 p.Val1085Ile (c.3253G>A): This variant has not been reported in the literature but is present in 12/126680 European alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/variant/2-149247153-G-A). This variant is present in ClinVar (Variation ID:279846). This variant amino acid isoleucine (Ile) is present in 3 mammals but is well conserved among evolutionarily distant species. Additional computational prediction tools are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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