ClinVar Miner

Submissions for variant NM_005933.4(KMT2A):c.2233C>T (p.Arg745Ter) (rs727503777)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000599517 SCV000710018 pathogenic not provided 2018-02-15 criteria provided, single submitter clinical testing The R745X variant in the KMT2A gene has been reported previously in an individual described as having overlapping features of Cornelia de Lange and and Wiedemann-Steiner syndrome including developmental delay/intellectual disability, short stature, failure to thrive, microcephaly, synophrys, dysmorphic facial features, low posterior hairline, patent ductus arteriosus, and hirsutism (Yuan et al., 2015). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R745X variant is not observed in large population cohorts (Lek et al., 2016). We interpret R745X as a pathogenic variant.
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000157053 SCV000195850 pathogenic Cornelia de Lange syndrome 1 2014-12-02 no assertion criteria provided research

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