ClinVar Miner

Submissions for variant NM_000156.6(GAMT):c.379G>A (p.Gly127Ser) (rs570476209)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187550 SCV000241144 likely benign not specified 2014-09-23 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory, University of Chicago RCV000187550 SCV000247449 uncertain significance not specified 2015-06-22 criteria provided, single submitter clinical testing
Invitae RCV001248221 SCV001421691 uncertain significance Cerebral creatine deficiency syndrome 2019-07-26 criteria provided, single submitter clinical testing This sequence change replaces glycine with serine at codon 127 of the GAMT protein (p.Gly127Ser). The glycine residue is moderately conserved and there is a small physicochemical difference between glycine and serine. This variant is present in population databases (rs570476209, ExAC 0.03%). This variant has not been reported in the literature in individuals with GAMT-related conditions. ClinVar contains an entry for this variant (Variation ID: 205567). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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.
Natera, Inc. RCV001272272 SCV001454103 likely benign Deficiency of guanidinoacetate methyltransferase 2020-09-16 no assertion criteria provided clinical testing

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