ClinVar Miner

Submissions for variant NM_001482.3(GATM):c.742G>A (p.Glu248Lys)

gnomAD frequency: 0.00001  dbSNP: rs1388250183
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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 RCV001918627 SCV002180894 uncertain significance Arginine:glycine amidinotransferase deficiency 2023-07-21 criteria provided, single submitter clinical testing Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt GATM protein function. 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. ClinVar contains an entry for this variant (Variation ID: 1407798). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 248 of the GATM protein (p.Glu248Lys). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with GATM-related conditions.

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