ClinVar Miner

Submissions for variant NM_000156.6(GAMT):c.262ATC[1] (p.Ile89del)

dbSNP: rs750232484
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187592 SCV000241187 uncertain significance not specified 2014-10-13 criteria provided, single submitter clinical testing c.265_267delATC: p.Ile89del (I89del) in exon 2 of the GAMT gene (NM_000156.4). The normal sequence with the bases deleted in braces is: GATC{ATC}GAGT. The c.265_267delATC variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The c.265_267delATC variant results in an in-frame deletion of a single Isoleucine residue, denoted p.I89del. This deletion occurs at a position that is highly conserved across species. Based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in INFANT-EPI panel(s).
Labcorp Genetics (formerly Invitae), Labcorp RCV000802086 SCV000941901 uncertain significance Cerebral creatine deficiency syndrome 2021-08-24 criteria provided, single submitter clinical testing This variant, c.265_267del, results in the deletion of 1 amino acid(s) of the GAMT protein (p.Ile89del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs750232484, ExAC 0.06%). 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: 205607). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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. RCV001833120 SCV002087049 uncertain significance Deficiency of guanidinoacetate methyltransferase 2020-11-10 no assertion criteria provided clinical testing

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