ClinVar Miner

Submissions for variant NM_018328.4(MBD5):c.3619C>T (p.Arg1207Ter) (rs978179634)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000657783 SCV000779536 likely pathogenic not provided 2018-05-07 criteria provided, single submitter clinical testing A variant that is likely pathogenic has been identified in the MBD5 gene. The R1207X variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The R1207X nonsense variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R1207X variant is not observed in large population cohorts (Lek et al., 2016). Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.

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