Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV002281834 | SCV002572342 | likely pathogenic | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | 2022-08-25 | criteria provided, single submitter | clinical testing | Variant summary: The variant identified by MLPA or other technology involves the deletion of exons 39-40 in the NBAS gene. A presumed nomenclature of c.(4582+1_4583-1)_(4797+1_4798-1)del has been designated for the purposes of this classification. Although exact breakpoints of this deletion are not known, it is expected to result in a frameshift in the NBAS gene, a known mechanism of disease. The variant was absent in 21694 control chromosomes (gnomAD database, structural variants dataset). Deletion of exons 39-40 has been reported in the literature in a compound heterozygous individual affected with Liver Failure Acute Infantile, Type 2 (Staufner_2016). To our knowledge, no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic. |