ClinVar Miner

Submissions for variant NM_001482.3(GATM):c.859C>T (p.Pro287Ser)

gnomAD frequency: 0.00002  dbSNP: rs773358289
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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 RCV001307698 SCV001497119 uncertain significance Arginine:glycine amidinotransferase deficiency 2024-09-05 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 287 of the GATM protein (p.Pro287Ser). This variant is present in population databases (rs773358289, gnomAD 0.006%). 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: 1010115). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt GATM protein function with a negative predictive value of 80%. 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 RCV002476418 SCV002791624 uncertain significance Arginine:glycine amidinotransferase deficiency; Fanconi renotubular syndrome 1 2022-04-19 criteria provided, single submitter clinical testing

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