ClinVar Miner

Submissions for variant NM_000156.6(GAMT):c.670G>A (p.Ala224Thr) (rs141471799)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187578 SCV000241172 likely benign not specified 2018-01-25 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.
Invitae RCV000529306 SCV000659573 uncertain significance Cerebral creatine deficiency syndrome 2019-11-27 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 224 of the GAMT protein (p.Ala224Thr). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (rs141471799, ExAC 0.04%). This variant has not been reported in the literature in individuals with GAMT-related disease. ClinVar contains an entry for this variant (Variation ID: 205593). Experimental studies, in vitro, have shown that this missense change does not disrupt GAMT protein function (PMID: 26319512). 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.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000732178 SCV000860094 uncertain significance not provided 2018-03-22 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000732178 SCV001143981 uncertain significance not provided 2019-07-09 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001123245 SCV001282064 uncertain significance Deficiency of guanidinoacetate methyltransferase 2017-05-09 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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