Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000680949 | SCV000808398 | benign | not provided | 2020-10-16 | criteria provided, single submitter | clinical testing | |
Center for Genomics, |
RCV000767998 | SCV000898766 | uncertain significance | Genitopatellar syndrome; Blepharophimosis - intellectual disability syndrome, SBBYS type | 2021-03-30 | criteria provided, single submitter | clinical testing | KAT6B NM_012330.3 exon 18 p.Glu1368del (c.4077_4079del): This variant has not been reported in the literature but is present in 3/30724 South Asian alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs772530975). This variant is present in ClinVar (Variation ID:260242). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Of note, this variant represents an in-frame deletion of 1 Glutamic acid (Glu) within a larger repeat region of several Glutamic acid residues and is not predicted to alter the reading frame. However, the effect of this variant on the protein is unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain. |
Labcorp Genetics |
RCV001436261 | SCV001639098 | likely benign | Genitopatellar syndrome | 2024-12-16 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002544700 | SCV003545149 | likely benign | Inborn genetic diseases | 2021-07-23 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Prevention |
RCV004535696 | SCV004733749 | likely benign | KAT6B-related disorder | 2021-02-23 | no assertion criteria provided | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |