ClinVar Miner

Submissions for variant NM_005324.5(H3-3B):c.377A>G (p.Gln126Arg)

dbSNP: rs2143629984
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV001823807 SCV002521891 likely pathogenic Bryant-Li-Bhoj neurodevelopmental syndrome 2 2022-05-22 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.72; 3Cnet: 3CNET). The variant has been previously reported as de novo in a similarly affected individual (PMID: 33268356). Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline.
Laboratory of Medical Genetics, University of Torino RCV001823807 SCV002760135 pathogenic Bryant-Li-Bhoj neurodevelopmental syndrome 2 2022-11-29 criteria provided, single submitter research
Laboratoire de Génétique Moléculaire, CHU Bordeaux RCV001823807 SCV003836706 likely pathogenic Bryant-Li-Bhoj neurodevelopmental syndrome 2 2022-03-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003407831 SCV004108131 likely pathogenic H3-3B-related disorder 2023-06-26 criteria provided, single submitter clinical testing The H3-3B c.377A>G variant is predicted to result in the amino acid substitution p.Gln126Arg. This variant was reported as de novo in a patient with neurodegenerative disease with features of developmental delay, brain abnormalities, seizures, hypotonia, strabismus, hypertelorism and constipation (Table S1, Bryant. 2020. PubMed ID: 33268356). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. This variant is interpreted as likely pathogenic.
OMIM RCV001823807 SCV002073375 pathogenic Bryant-Li-Bhoj neurodevelopmental syndrome 2 2022-02-02 no assertion criteria provided literature only

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.