ClinVar Miner

Submissions for variant NM_001482.3(GATM):c.5_33del (p.Leu2fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005195719 SCV005839005 pathogenic Arginine:glycine amidinotransferase deficiency 2024-09-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu2Profs*42) in the GATM gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GATM are known to be pathogenic (PMID: 11555793). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with GATM-related conditions. For these reasons, this variant has been classified as Pathogenic.

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