Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV003123496 | SCV003801117 | likely pathogenic | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | 2023-01-06 | criteria provided, single submitter | clinical testing | Variant summary: The variant identified by MLPA or other technology involves the duplication of exons 33-36 in the NBAS gene. A presumed nomenclature of c.(3817+1_3818-1)_(4347+1_4348-1)dup has been designated for the purposes of this classification. It has been assumed that this is a tandem duplication in direct orientation (Richardson_GIM_2018, Newman_AJHG_2015). Although exact breakpoints of this duplication are not known, it is expected to result in a frameshift in the NBAS gene. The variant was absent in 21694 control chromosomes in the gnomAD database (structural variants data set). To our knowledge, no occurrence of c.(3817+1_3818-1)_(4347+1_4348-1)dup in individuals affected with Liver Failure Acute Infantile, Type 2 and 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. |