Total submissions: 5
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, |
RCV001823807 | SCV002760135 | pathogenic | Bryant-Li-Bhoj neurodevelopmental syndrome 2 | 2022-11-29 | criteria provided, single submitter | research | |
Laboratoire de Génétique Moléculaire, |
RCV001823807 | SCV003836706 | likely pathogenic | Bryant-Li-Bhoj neurodevelopmental syndrome 2 | 2022-03-03 | criteria provided, single submitter | clinical testing | |
Prevention |
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 |