ClinVar Miner

Submissions for variant NM_001482.3(GATM):c.138C>T (p.Ser46=)

gnomAD frequency: 0.00001  dbSNP: rs1012951622
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000604677 SCV000722209 likely benign not specified 2017-09-06 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000645724 SCV000767476 likely benign Arginine:glycine amidinotransferase deficiency 2023-10-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002491263 SCV002801192 likely benign Arginine:glycine amidinotransferase deficiency; Fanconi renotubular syndrome 1 2022-04-23 criteria provided, single submitter clinical testing

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