ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.2506C>A (p.Gln836Lys)

gnomAD frequency: 0.00019  dbSNP: rs200192746
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000146196 SCV000193431 likely benign not specified 2015-04-22 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659703 SCV000781550 likely benign Kabuki syndrome 1 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV001404137 SCV001606028 likely benign Kabuki syndrome 2024-01-20 criteria provided, single submitter clinical testing
GeneDx RCV001709495 SCV001938643 benign not provided 2020-02-11 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30459467)
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224166 SCV003920125 uncertain significance Kabuki syndrome 1; Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome 2021-03-30 criteria provided, single submitter clinical testing KMT2D NM_003482.3 exon 10 p.Gln836Lys (c.2506C>A): This variant has not been reported in the literature but is present in 0.03% (40/100306) of European alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/variant/12-49444960-G-T). This variant is present in ClinVar (Variation ID:158754). Evolutionary conservation and computational predictive tools suggest that this variant may not 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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