ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.3889C>T (p.Arg1297Cys)

gnomAD frequency: 0.00005  dbSNP: rs746084513
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000174077 SCV000225315 uncertain significance not provided 2014-12-08 criteria provided, single submitter clinical testing
Invitae RCV001316081 SCV001506683 benign Kabuki syndrome 2023-12-13 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224188 SCV003920134 uncertain significance Kabuki syndrome 1; Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome 2022-09-01 criteria provided, single submitter clinical testing This variant has not been reported in the literature but is present in the Genome Aggregation Database (Highest reported MAF 0.007% (3/41452) (https://gnomad.broadinstitute.org/variant/12-49049699-G-A?dataset=gnomad_r3). This variant is present in ClinVar (Variation ID:193866). 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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