ClinVar Miner

Submissions for variant NM_000045.4(ARG1):c.129del (p.Glu44fs)

dbSNP: rs1169538148
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Total submissions: 3
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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).
PreventionGenetics, part of Exact Sciences 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.

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