ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.5423G>A (p.Gly1808Glu)

gnomAD frequency: 0.00001  dbSNP: rs765343914
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Total submissions: 3
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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 RCV001280991 SCV001468378 uncertain significance Kabuki syndrome 1 2020-06-18 criteria provided, single submitter clinical testing KMT2D NM_003482.3 exon 23 p.Gly1808Glu (c.5423G>A): This variant has not been reported in the literature but is present in 0.005% (2/34516) of Latino alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/12-49437462-C-T?dataset=gnomad_r2_1). Evolutionary conservation suggests that this variant may impact the protein; 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002537909 SCV002975500 benign Kabuki syndrome 2022-03-22 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224545 SCV003920122 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 23 p.Gly1808Glu (c.5423G>A): This variant has not been reported in the literature but is present in 0.005% (2/34516) of Latino alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/12-49437462-C-T?dataset=gnomad_r2_1). Evolutionary conservation suggests that this variant may impact the protein; 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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