Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV004529772 | SCV004109830 | uncertain significance | KAT6B-related disorder | 2023-02-23 | criteria provided, single submitter | clinical testing | The KAT6B c.4738C>G variant is predicted to result in the amino acid substitution p.Gln1580Glu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0062% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/10-76789320-C-G). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |