ClinVar Miner

Submissions for variant NM_018328.4(MBD5):c.601C>T (p.Gln201Ter) (rs200287454)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760716 SCV000890608 pathogenic not provided 2018-08-30 criteria provided, single submitter clinical testing The Q201X variant in the MBD5 gene has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This variant is not observed in large population cohorts (Lek et al., 2016). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. We interpret Q201X as a pathogenic variant

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