Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Genomics, |
RCV000768008 | SCV000898787 | uncertain significance | Kabuki syndrome 1 | 2018-02-05 | criteria provided, single submitter | clinical testing | KMT2D NM_003482.3 exon 39 p.Gln3950Arg (c.11849A>G): This variant has not been reported in the literature but is present in 4/70846 European alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs751367935). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain. |
Gene |
RCV001572528 | SCV001797187 | likely benign | not provided | 2021-01-06 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 30459467) |
Labcorp Genetics |
RCV001869057 | SCV002144102 | likely benign | Kabuki syndrome | 2024-12-10 | criteria provided, single submitter | clinical testing | |
Center for Genomics, |
RCV003224414 | SCV003920117 | uncertain significance | 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 39 p.Gln3950Arg (c.11849A>G): This variant has not been reported in the literature but is present in 4/70846 European alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs751367935). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain. |
Prevention |
RCV004540088 | SCV004783569 | uncertain significance | KMT2D-related disorder | 2023-11-30 | no assertion criteria provided | clinical testing | The KMT2D c.11849A>G variant is predicted to result in the amino acid substitution p.Gln3950Arg. This variant was reported in an individual with Kabuki syndrome (Table S3, Faundes et al. 2019. PubMed ID: 30459467). This variant is reported in 0.016% 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. |