ClinVar Miner

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

gnomAD frequency: 0.00002  dbSNP: 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 RCV001704991 SCV000241144 uncertain significance not provided 2019-06-03 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Genetic Services Laboratory, University of Chicago RCV000187550 SCV000247449 uncertain significance not specified 2015-06-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001248221 SCV001421691 uncertain significance Cerebral creatine deficiency syndrome 2021-12-31 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 127 of the GAMT protein (p.Gly127Ser). This variant is present in population databases (rs570476209, gnomAD 0.02%). 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: 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, which suggests that this missense change does not adversely affect protein function. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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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