ClinVar Miner

Submissions for variant NM_001482.3(GATM):c.239T>C (p.Val80Ala)

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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 RCV005188472 SCV005823383 uncertain significance Arginine:glycine amidinotransferase deficiency 2024-09-27 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 80 of the GATM protein (p.Val80Ala). This variant is present in population databases (rs770990709, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with GATM-related conditions. 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 expected to disrupt GATM protein function with a positive 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.

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