ClinVar Miner

Submissions for variant NM_012330.4(KAT6B):c.457C>T (p.Arg153Ter)

dbSNP: rs1564516087
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760866 SCV000890762 pathogenic not provided 2024-09-03 criteria provided, single submitter clinical testing 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); Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV002533852 SCV003003561 uncertain significance Genitopatellar syndrome 2023-08-04 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. ClinVar contains an entry for this variant (Variation ID: 620483). This premature translational stop signal has been observed in individual(s) with clinical features of KAT6B-related conditions (Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg153*) in the KAT6B gene. However, it is currently unclear if variants that occur in this region of the gene cause disease.

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