Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000723446 | SCV000331042 | pathogenic | not provided | 2016-07-07 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000279971 | SCV000486660 | likely pathogenic | Classic homocystinuria | 2016-07-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000279971 | SCV001375320 | pathogenic | Classic homocystinuria | 2019-06-03 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Val10Trpfs*72) in the CBS gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs779250698, ExAC 0.002%). This variant has been observed in combination with another CBS variant in individuals affected with homocystinuria (PMID: 11359213, 29352562). This variant is also known as c.28_29delG in the literature. ClinVar contains an entry for this variant (Variation ID: 281010). Loss-of-function variants in CBS are known to be pathogenic (PMID: 10338090, 12124992). For these reasons, this variant has been classified as Pathogenic. |