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: 4
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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
Labcorp Genetics (formerly Invitae), Labcorp RCV001316081 SCV001506683 benign Kabuki syndrome 2024-12-17 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; Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature 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.
PreventionGenetics, part of Exact Sciences RCV004758660 SCV005353345 uncertain significance KMT2D-related disorder 2024-04-25 no assertion criteria provided clinical testing The KMT2D c.3889C>T variant is predicted to result in the amino acid substitution p.Arg1297Cys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.029% of alleles in individuals of European (Finnish) descent in gnomAD. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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