Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002240537 | SCV001231839 | pathogenic | HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED | 2019-12-29 | criteria provided, single submitter | clinical testing | Loss-of-function variants in CBS are known to be pathogenic (PMID: 10338090, 12124992). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has been observed in individual(s) with homocystinuria (PMID: 9266356). This variant is present in population databases (rs376916741, ExAC 0.03%). This sequence change creates a premature translational stop signal (p.Trp409*) in the CBS gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. |