ClinVar Miner

Submissions for variant NM_005324.5(H3-3B):c.68C>G (p.Thr23Arg)

dbSNP: rs2143631320
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Goettingen RCV002267589 SCV002549715 likely pathogenic Bryant-Li-Bhoj neurodevelopmental syndrome 2 2023-01-31 criteria provided, single submitter clinical testing The variant c.68C>G (p.(Thr23Arg)) in exon 2 of the H3-3B-gene is not found in in the gnomAD database. Another nucleotide change resulting in another amino acid change at the same position was described as pathogenic (c.68C>A, p.(Thr23Lys); PMID: 34876591), although functional studies did not reveal a pathogenic influence of the published variant on protein function. The variant affects a highly conserved nucleotide, a highly conserved amino acid, there is a moderate physicochemical difference between Thr and Arg and the variant is located within a protein domain. This variant has a pathogenic computational verdict based on in silico prediction programs. Missense variants in H3-3B are a known mechanism of disease. It was found de novo in our patient. Thus, we consider this H3-3B-variant a likely pathogenic variant. ACMG criteria used for classification: PM2, PM5, PM6, PP2, PP3.

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