ClinVar Miner

Submissions for variant NM_001482.3(GATM):c.61G>A (p.Gly21Arg)

gnomAD frequency: 0.00005  dbSNP: rs903485357
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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 RCV002039315 SCV002112144 uncertain significance Arginine:glycine amidinotransferase deficiency 2021-01-14 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 21 of the GATM protein (p.Gly21Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals with GATM-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV005006095 SCV005630823 uncertain significance Arginine:glycine amidinotransferase deficiency; Fanconi renotubular syndrome 1 2024-05-04 criteria provided, single submitter clinical testing

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