Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV003388550 | SCV004100268 | pathogenic | Mitochondrial trifunctional protein deficiency 2 | 2023-09-29 | criteria provided, single submitter | clinical testing | Variant summary: The variant identified by MLPA or other technology involves the deletion of exon 4 in the HADHB gene. A presumed nomenclature of c.(109+1_110-1)_(209+1_210-1)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 HADHB gene, a known mechanism of disease. The variant was absent in 21694 control chromosomes (gnomAD Structural Variants dataset). The variant has been reported in the literature in individual(s) with phenotypes compatible with Mitochondrial Trifunctional Protein Deficiency 2 (e.g. Aradhya_2012, Wang_2012). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. No submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic. |