Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000674984 | SCV000800404 | likely pathogenic | Citrullinemia type I | 2018-06-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002544676 | SCV003441499 | pathogenic | Citrullinemia | 2022-11-02 | criteria provided, single submitter | clinical testing | This premature translational stop signal has been observed in individual(s) with citrullinaemia (PMID: 25537548). This variant is present in population databases (rs775791516, gnomAD 0.006%). This sequence change creates a premature translational stop signal (p.Phe317Leufs*59) in the ASS1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ASS1 are known to be pathogenic (PMID: 18473344, 19006241). ClinVar contains an entry for this variant (Variation ID: 558680). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV000674984 | SCV004205690 | pathogenic | Citrullinemia type I | 2022-07-12 | criteria provided, single submitter | clinical testing |