Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000169103 | SCV000220298 | likely pathogenic | Citrullinemia type I | 2014-05-08 | criteria provided, single submitter | literature only | |
Invitae | RCV001850390 | SCV002233049 | pathogenic | Citrullinemia | 2021-09-18 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 188776). This premature translational stop signal has been observed in individual(s) with citrullinemia (PMID: 12815590). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln380*) 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). |