Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Wangler Lab, |
RCV002291071 | SCV002581935 | likely pathogenic | Holoprosencephaly 5 | 2022-06-22 | criteria provided, single submitter | research | This indel at c.1213_1216delinsGCATGT (p.Pro405Alafs*9) was seen on exome through the Texome Project (R01HG011795). It has not been observed in healthy populations (PM2). This stop-gain variant is located in exon 2 of 3 and is predicted to be deleterious (PP3) and results in nonsense mediated decay in a gene where LOF is a documented mechanism of disease (PVS1) (PMID: 11285244). We determine this change to be likely pathogenic. |
Baylor Genetics | RCV002291071 | SCV003835198 | likely pathogenic | Holoprosencephaly 5 | 2022-06-15 | criteria provided, single submitter | clinical testing | |
Genome |
RCV002291071 | SCV003931251 | not provided | Holoprosencephaly 5 | no assertion provided | phenotyping only | Variant classified as Likely pathogenic and reported on 06-15-2022 by Baylor Medical Genetics Laboratories. Assertions are reported exactly as they appear on the patient provided laboratory report. GenomeConnect does not attempt to reinterpret the variant. The IDDRC-CTSA National Brain Gene Registry (BGR) is a study funded by the U.S. National Center for Advancing Translational Sciences (NCATS) and includes 13 Intellectual and Developmental Disability Research Center (IDDRC) institutions. The study is led by Principal Investigator Dr. Philip Payne from Washington University. The BGR is a data commons of gene variants paired with subject clinical information. This database helps scientists learn more about genetic changes and their impact on the brain and behavior. Participation in the Brain Gene Registry requires participation in GenomeConnect. More information about the Brain Gene Registry can be found on the study website - https://braingeneregistry.wustl.edu/. |