Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001697795 | SCV000524950 | likely benign | not provided | 2020-09-16 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000650021 | SCV000771858 | uncertain significance | Lipoic acid synthetase deficiency | 2024-01-11 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 4 of the LIAS gene. It does not directly change the encoded amino acid sequence of the LIAS protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs368453789, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with LIAS-related conditions. ClinVar contains an entry for this variant (Variation ID: 384227). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Genome |
RCV000650021 | SCV003931206 | not provided | Lipoic acid synthetase deficiency | no assertion provided | phenotyping only | Variant classified as Uncertain significance and reported on 07-21-2022 by Invitae. 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/. |