Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000674133 | SCV000799413 | likely pathogenic | Arginase deficiency | 2018-04-17 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000674133 | SCV001580494 | pathogenic | Arginase deficiency | 2023-06-07 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu44Serfs*4) in the ARG1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ARG1 are known to be pathogenic (PMID: 7649538, 12052859). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 557931). This premature translational stop signal has been observed in individual(s) with arginase deficiency (Invitae). This variant is not present in population databases (gnomAD no frequency). |
Prevention |
RCV003907934 | SCV004727154 | pathogenic | ARG1-related condition | 2024-02-28 | criteria provided, single submitter | clinical testing | The ARG1 c.129delA variant is predicted to result in a frameshift and premature protein termination (p.Gln43Glnfs*5). To our knowledge this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Frameshift variants in ARG1 are expected to be pathogenic. This variant is interpreted as pathogenic. |