ClinVar Miner

Submissions for variant NM_018328.4(MBD5):c.440C>G (p.Ser147Ter) (rs886041003)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000478489 SCV000567167 pathogenic not provided 2018-02-20 criteria provided, single submitter clinical testing The S147X variant in the MBD5 gene has been reported previously as a confirmed de novo change in anindividual with development delay, intellectual disability, autistic-like features, seizures, hypotonia anddysmorphic facial features (Bonnet et al., 2013). This variant is predicted to cause loss of normal proteinfunction either through protein truncation or nonsense-mediated mRNA decay. The S147X variant wasnot observed in approximately 6500 individuals of European and African American ancestry in the NHLBIExome Sequencing Project, indicating it is not a common benign variant in these populations. We interpretS147X as a pathogenic variant.
GeneReviews RCV000258320 SCV000328436 pathogenic Mental retardation, autosomal dominant 1 2016-07-21 no assertion criteria provided literature only

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