Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000235897 | SCV000292798 | uncertain significance | not provided | 2016-12-19 | criteria provided, single submitter | clinical testing | The c.1609-8 C>G variant of uncertain significance has been identified in the LMNA gene. This variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.1609-8 C>G variant was not observed in approximately 6,300 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This substitution occurs at a nucleotide that is conserved in mammals. In silico splice algorithms predicts this variant may damage the natural splice acceptor site for intron 9 and may cause abnormal gene splicing. This variant may lead to either an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. However, in the absence of functional mRNA studies, the physiological consequence of this variant cannot be precisely determined. Nevertheless, other non-canonical splice site variants in the LMNA gene have been reported in the Human Gene Mutation Database in association with LMNA-related disorders (Stenson et al., 2014). |
| Labcorp Genetics |
RCV002518429 | SCV003490818 | likely benign | Charcot-Marie-Tooth disease type 2 | 2022-06-30 | criteria provided, single submitter | clinical testing |