Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001031894 | SCV001195201 | likely pathogenic | Classic homocystinuria | 2019-12-20 | criteria provided, single submitter | clinical testing | This variant results in a copy number gain of the genomic region encompassing exons 11-12 of the CBS gene. While the exact position of this variant cannot be determined from this data, sub-genic copy number gains are generally in tandem (PMID: 25640679) and may result in an absent or disrupted protein product. This variant has been observed in an individual affected with homocystinuria (Invitae). Loss-of-function variants in CBS are known to be pathogenic (PMID: 10338090, 12124992). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |
Invitae | RCV001873432 | SCV002231195 | pathogenic | HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED | 2022-08-29 | criteria provided, single submitter | clinical testing | This variant results in a copy number gain of the genomic region encompassing exon(s) 11-12 of the CBS gene. While the exact position of this variant cannot be determined from the data, sub-genic copy number gains are generally in tandem (PMID: 25640679). This variant is predicted to be out-of-frame, and may result in an absent or disrupted protein product. Loss-of-function variants in CBS are known to be pathogenic (PMID: 10338090, 12124992). A similar copy number variant has been observed in individuals with homocystinuria (Invitae). For these reasons, this variant has been classified as Pathogenic. |