ClinVar Miner

Submissions for variant NM_012330.4(KAT6B):c.4065GGA[4] (p.Glu1368del)

dbSNP: rs367634881
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000680949 SCV000808398 benign not provided 2020-10-16 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 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 (formerly Invitae), Labcorp 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.
PreventionGenetics, part of Exact Sciences 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).

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