Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Genomics, |
RCV000768007 | SCV000898786 | uncertain significance | Kabuki syndrome 1 | 2018-09-12 | criteria provided, single submitter | clinical testing | KMT2D NM_003482.3 exon 48 p.His5114Pro (c.15341A>C): 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, |
RCV003224807 | SCV003920884 | likely pathogenic | 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 48 p.His5114Pro (c.15341A>C): This variant has not been reported in the literature but has been identified by our laboratory as de novo in 1 individual with a clinical suspicion of Kabuki syndrome. This variant 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 highly suspicious for disease, but requires further evidence for pathogenicity. Therefore, this variant is classified as likely pathogenic. |