ClinVar Miner

Submissions for variant NM_006766.5(KAT6A):c.856C>T (p.Arg286Ter)

dbSNP: rs1564038539
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV000735235 SCV000863444 pathogenic Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 2018-07-13 criteria provided, single submitter clinical testing
GeneDx RCV002509527 SCV002818777 pathogenic not provided 2022-07-05 criteria provided, single submitter clinical testing Identified in an individual with a neurodevelopmental disorder, but segregation and detailed clinical information was not provided (Wang et al., 2020); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 33004838)
Clinical Genetics Laboratory, Skane University Hospital Lund RCV002509527 SCV005198508 pathogenic not provided 2023-06-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV004985109 SCV005604066 pathogenic Inborn genetic diseases 2024-06-27 criteria provided, single submitter clinical testing The c.856C>T (p.R286*) alteration, located in exon 5 (coding exon 4) of the KAT6A gene, consists of a C to T substitution at nucleotide position 856. This changes the amino acid from a arginine (R) to a stop codon at amino acid position 286. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). Based on the available evidence, this alteration is classified as pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV002509527 SCV005781692 pathogenic not provided 2024-11-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg286*) in the KAT6A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in KAT6A are known to be pathogenic (PMID: 25728775, 25728777, 27133397). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with KAT6A-related conditions (PMID: 33004838). ClinVar contains an entry for this variant (Variation ID: 598767). For these reasons, this variant has been classified as Pathogenic.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.