ClinVar Miner

Submissions for variant NM_001378120.1(MBD5):c.136T>C (p.Cys46Arg)

dbSNP: rs139186486
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001837366 SCV002097929 uncertain significance Intellectual disability, autosomal dominant 1 2020-06-04 criteria provided, single submitter clinical testing The inherited p.Cys46Arg variant identified in the MBD5gene has not been reported in affected individuals in the literature to the best of our current knowledge. The variant is absent from the gnomAD (V3) database indicating it is an extremely rare allele in the general population. The p.Cys46Arg residue is not within a mapped domain of MBD5 (UniProtKB:Q9P267). The affected residue is relatively conserved. In silico tools provide conflicting interpretations about potential pathogenicity of this variant. Given the lack of compelling evidence for its pathogenicity, the inherited p.Cys46Arg variant identified in the MBD5 gene is reported as a Variant of Uncertain Significance.

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