ClinVar Miner

Submissions for variant NM_000045.4(ARG1):c.366G>A (p.Trp122Ter)

dbSNP: rs2114539596
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001380853 SCV001579038 pathogenic Arginase deficiency 2022-12-26 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1069104). This premature translational stop signal has been observed in individuals with arginase deficiency (PMID: 1463019, 24814679). This sequence change creates a premature translational stop signal (p.Trp122*) 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).
Baylor Genetics RCV001380853 SCV004208448 likely pathogenic Arginase deficiency 2024-02-01 criteria provided, single submitter clinical testing

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