ClinVar Miner

Submissions for variant NM_001482.3(GATM):c.585G>A (p.Ala195=)

dbSNP: rs773913371
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001490881 SCV001695455 likely benign Arginine:glycine amidinotransferase deficiency 2025-02-02 criteria provided, single submitter clinical testing
GeneDx RCV001685368 SCV001899240 likely benign not provided 2019-10-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002359100 SCV002647673 likely benign Inborn genetic diseases 2020-03-24 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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