Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| 3billion | RCV003314008 | SCV004013775 | pathogenic | Bryant-Li-Bhoj neurodevelopmental syndrome 1 | criteria provided, single submitter | clinical testing | The variant is not observed in the gnomAD v2.1.1 dataset. The variant is located in a mutational hot spot and/or well-established functional domain in which established pathogenic variants have been reported. Missense changes are a common disease-causing mechanism. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.46; 3Cnet: 0.83). Same nucleotide change resulting in same amino acid change has been previously reported to be associated with H3-3A related disorder (ClinVar ID: VCV001183980 / PMID: 33268356). The variant has been previously reported as de novo in a similarly affected individual (PMID: 33268356, 33268356). A different missense change at the same codon (p.Met121Lys) has been reported to be associated with H3-3A related disorder (PMID: 33268356). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline. | |
| Gene |
RCV004728764 | SCV005333265 | pathogenic | not provided | 2024-03-12 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 33268356, 34876591) |
| Baylor Genetics | RCV001541912 | SCV001759941 | likely pathogenic | Global developmental delay; Short stature; Delayed speech and language development; Intellectual disability; Brain imaging abnormality | 2021-07-15 | no assertion criteria provided | research |