ClinVar Miner

Submissions for variant NM_012330.4(KAT6B):c.3378_3381del (p.Phe1127fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego RCV004545853 SCV004046182 pathogenic KAT6B-related disorder criteria provided, single submitter clinical testing This frameshifting variant in exon 17 of 18 is predicted to result in loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant has not been previously reported or functionally characterized in the literature to our knowledge. The c.3378_3382delinsA (p.Phe1127TyrfsTer2) variant is absent from the gnomAD population database and thus is presumed to be rare. Analysis of the parental samples was negative for the variant, indicating this variant likely occurred as a de novo event. Based on the available evidence, the c.3378_3382delinsA (p.Phe1127TyrfsTer2) variant is classified as Pathogenic.

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