ClinVar Miner

Submissions for variant NM_001197104.2(KMT2A):c.7144C>T (p.Arg2382Ter)

dbSNP: rs387907275
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MGZ Medical Genetics Center RCV000030724 SCV002580058 pathogenic Wiedemann-Steiner syndrome 2022-05-31 criteria provided, single submitter clinical testing
OMIM RCV000030724 SCV000053385 pathogenic Wiedemann-Steiner syndrome 2012-08-10 no assertion criteria provided literature only
Clinical Genomics Laboratory, Stanford Medicine RCV000030724 SCV004101780 pathogenic Wiedemann-Steiner syndrome 2021-03-16 no assertion criteria provided clinical testing The p.Arg2382* variant in the KMT2A gene has been previously reported de novo in 1 individual with Wiedemann-Steiner syndrome (Jones et al., 2012). This variant was absent from large population databases, including the Genome Aggregation Database (http://gnomad.broadinstitute.org/). The p.Arg2382* variant leads to a premature stop codon in exon 27 of 36 coding exons, and is therefore predicted to undergo nonsense-mediated decay resulting in a truncated or absent protein. Heterozygous loss of function is an established mechanism of disease for the KMT2A gene. These data were assessed using the ACMG/AMP variant interpretation guidelines. In summary, there is sufficient evidence to classify the p.Arg2382* variant as pathogenic for autosomal dominant Wiedemann-Steiner syndrome based on the information above. [ACMG evidence codes used: PVS1; PS2; PM2]

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