ClinVar Miner

Submissions for variant NM_001003694.2(BRPF1):c.1217dup (p.Tyr406Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV002472125 SCV002768546 pathogenic Intellectual developmental disorder with dysmorphic facies and ptosis 2019-08-28 criteria provided, single submitter clinical testing A heterozygous nonsense variant was identified, NM_001003694.1(BRPF1):c.1217dup in exon 3 of 14 of the BRPF1 gene. This nonsense variant is predicted to create a change of tyrosine to a stop at amino acid position 406 of the protein, NP_001003694.1(BRPF1):p.(Tyr406*), resulting in the loss of normal protein function through nonsense-mediated decay (NMD). The variant is present in the gnomAD population database at a frequency of 0.0004% (1 heterozygote, 0 homozygotes). The variant has not been previously reported in clinical cases, however a different nucleotide change resulting in a stop at the same codon has been reported as Pathogenic in ClinVar. Other variants predicted to cause NMD have been reported as pathogenic in individuals with Intellectual developmental disorder with dysmorphic facies and ptosis (ClinVar). Based on information available at the time of curation, this variant has been classified as PATHOGENIC.

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