ClinVar Miner

Submissions for variant NM_001482.3(GATM):c.875A>G (p.His292Arg)

gnomAD frequency: 0.00001  dbSNP: rs747005297
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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 RCV001337722 SCV001531332 uncertain significance Arginine:glycine amidinotransferase deficiency 2022-07-20 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 292 of the GATM protein (p.His292Arg). This variant is present in population databases (rs747005297, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with GATM-related conditions. ClinVar contains an entry for this variant (Variation ID: 1034931). 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: "Probably Damaging"; 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 RCV002476559 SCV002782622 uncertain significance Arginine:glycine amidinotransferase deficiency; Fanconi renotubular syndrome 1 2022-05-14 criteria provided, single submitter clinical testing

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