ClinVar Miner

Submissions for variant NM_003482.3(KMT2D):c.7001G>A (p.Arg2334Gln) (rs757300574)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768010 SCV000898790 uncertain significance Kabuki syndrome 1 2017-08-16 criteria provided, single submitter clinical testing KMT2D:NM_003482.3 exon31, p.Arg2334Gln (c.7001G>A): This variant has not been reported in the literature, but is present in 3/34372 Latino chromosomes in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs757300574). Of note, several bird species also have this variant (White Throated Sparrow, Medium Ground Finch, Zebra Finch, and Mallard Duck), suggesting that this variant may not impact the protein. Additional computational prediction tools are limited or unavailable. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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