ClinVar Miner

Submissions for variant NM_000156.6(GAMT):c.607C>T (p.Arg203Trp)

gnomAD frequency: 0.00001  dbSNP: rs746633494
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523925 SCV000617933 uncertain significance not provided 2022-11-22 criteria provided, single submitter clinical testing Reported as a heterozygous variant in an individual with intellectual disability in published literature; however, additional clinical information was not provided (Redin et al., 2014); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 25167861)
Labcorp Genetics (formerly Invitae), Labcorp RCV001851490 SCV002306812 uncertain significance Cerebral creatine deficiency syndrome 2024-10-23 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 203 of the GAMT protein (p.Arg203Trp). This variant is present in population databases (rs746633494, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with GAMT-related conditions. ClinVar contains an entry for this variant (Variation ID: 449622). 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 GAMT protein function with a negative predictive value of 95%. 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.
CeGaT Center for Human Genetics Tuebingen RCV000523925 SCV004139058 uncertain significance not provided 2022-07-01 criteria provided, single submitter clinical testing GAMT: PM2, BP4
Natera, Inc. RCV001834683 SCV002087010 uncertain significance Deficiency of guanidinoacetate methyltransferase 2019-10-28 no assertion criteria provided clinical testing

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