ClinVar Miner

Submissions for variant NM_000156.5(GAMT):c.670G>A (p.Ala224Thr) (rs141471799)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000732178 SCV000860094 uncertain significance not provided 2018-03-22 criteria provided, single submitter clinical testing
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 2018-02-10 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.

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