ClinVar Miner

Submissions for variant NM_012330.4(KAT6B):c.5731C>T (p.Gln1911Ter)

dbSNP: rs1564633281
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000687216 SCV000814771 uncertain significance Genitopatellar syndrome 2018-01-14 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. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids is currently unknown. This variant has been reported in an individual affected with Say-Barber-Biesecker syndrome, also known as Say-Barber-Biesecker-Young-Simpson syndrome (PMID: 25424711). This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the KAT6B gene (p.Gln1911*). While this is not anticipated to result in nonsense mediated decay, it is expected to delete the last 163 amino acids of the KAT6B protein.

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