ClinVar Miner

Submissions for variant NM_001197104.1(KMT2A):c.7438C>T (p.Arg2480Ter) (rs1555046568)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000520124 SCV000618449 pathogenic not provided 2017-07-12 criteria provided, single submitter clinical testing The R2480X variant in the KMT2A gene has been reported as a de novo variant in a Japanese child with Weidemann-Steiner sydrome (Miyake et al., 2015). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R2480X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret R2480X as a pathogenic variant.
OMIM RCV000626313 SCV000746975 pathogenic Wiedemann-Steiner syndrome 2018-04-27 no assertion criteria provided literature only

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