ClinVar Miner

Submissions for variant NM_000481.4(AMT):c.231G>A (p.Ser77=)

gnomAD frequency: 0.00005  dbSNP: rs779002947
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670301 SCV000795136 likely benign Non-ketotic hyperglycinemia 2017-10-27 criteria provided, single submitter clinical testing
Invitae RCV000670301 SCV001012941 likely benign Non-ketotic hyperglycinemia 2024-01-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003918108 SCV004730678 likely benign AMT-related condition 2019-05-10 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV000670301 SCV001460886 likely benign Non-ketotic hyperglycinemia 2019-12-29 no assertion criteria provided clinical testing

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