ClinVar Miner

Submissions for variant NM_001482.3(GATM):c.255C>T (p.Asn85=)

gnomAD frequency: 0.00001  dbSNP: rs1057522666
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000427174 SCV000528881 likely benign not specified 2016-06-23 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 RCV002521836 SCV003299404 likely benign Arginine:glycine amidinotransferase deficiency 2024-01-25 criteria provided, single submitter clinical testing

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