Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000410740 | SCV000543510 | pathogenic | Classic homocystinuria | 2018-09-11 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Lys247Serfs*22) in the CBS gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs766453711, ExAC 0.002%). This variant has not been reported in the literature in individuals with CBS-related disease. ClinVar contains an entry for this variant (Variation ID: 370105). Loss-of-function variants in CBS are known to be pathogenic (PMID: 10338090, 12124992). For these reasons, this variant has been classified as Pathogenic. |
Counsyl | RCV000410740 | SCV000485335 | likely pathogenic | Classic homocystinuria | 2015-11-18 | no assertion criteria provided | clinical testing |