Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Dept. |
RCV003313906 | SCV004013131 | likely pathogenic | Methylmalonic aciduria and homocystinuria type cblF | 2023-04-25 | criteria provided, single submitter | clinical testing | The LMBRD1 variant is classified as likely pathogenic with experimental evidence of exon 6 skipping due to the 4 nucleotide deletion in splice region, and computational modelling evidence showing disrupted LMBD1 protein structure which may affect the function and its binding affinity with ABCD4 protein. This variant has been associated with several clinical phenotypes, including developmental delay, testicular atrophy, accentuated palmar crease, reticulated dyschromia in the thoracic region, severe nail dystrophy, hyperpigmentation, angular cheilitis, aphthous ulcers, and mucosal lichen planus. |