ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.10640G>A (p.Arg3547His)

dbSNP: rs775632051
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Total submissions: 2
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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 RCV001027791 SCV001190401 uncertain significance Kabuki syndrome 1 2019-07-05 criteria provided, single submitter clinical testing KMT2D NM_003482.3 exon 38 p.Arg3547His (c.10640G>A): This variant has not been reported in the literature and is not present in large control databases. Evolutionary conservation and computational predictive tools suggest that this variant may impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224504 SCV003920118 uncertain significance Kabuki syndrome 1; Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome 2021-03-30 criteria provided, single submitter clinical testing KMT2D NM_003482.3 exon 38 p.Arg3547His (c.10640G>A): This variant has not been reported in the literature and is not present in large control databases. Evolutionary conservation and computational predictive tools suggest that this variant may impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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