Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000443006 | SCV000536666 | uncertain significance | not provided | 2017-02-06 | criteria provided, single submitter | clinical testing | The R333Q variant in the LIPE gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This variant is observed in 67/16144 (0.42%) alleles from individuals of South Asian background, in the ExAC dataset (Lek et al., 2016). The R333Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret R333Q as a variant of uncertain significance. |
Labcorp Genetics |
RCV000443006 | SCV001023390 | likely benign | not provided | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV001821211 | SCV002065966 | uncertain significance | not specified | 2017-06-30 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003902627 | SCV004725826 | likely benign | LIPE-related disorder | 2023-11-09 | no assertion criteria provided | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |