ClinVar Miner

Submissions for variant NM_001482.3(GATM):c.306G>C (p.Lys102Asn)

dbSNP: rs376335787
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003507267 SCV004343964 uncertain significance Arginine:glycine amidinotransferase deficiency 2023-02-16 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with asparagine, which is neutral and polar, at codon 102 of the GATM protein (p.Lys102Asn). This variant is present in population databases (rs376335787, gnomAD 0.0009%). 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: 225912). 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 not expected to disrupt GATM protein function. Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on GATM function (PMID: 27233232). 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.
Hospital for Sick Children RCV000488901 SCV000267660 not provided not provided no assertion provided in vitro

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