ClinVar Miner

Submissions for variant NM_000481.4(AMT):c.555C>T (p.Pro185=)

gnomAD frequency: 0.00006  dbSNP: rs144790394
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669300 SCV000794041 uncertain significance Non-ketotic hyperglycinemia 2017-11-15 criteria provided, single submitter clinical testing
Invitae RCV000669300 SCV001037073 likely benign Non-ketotic hyperglycinemia 2024-01-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002531223 SCV003620028 likely benign Inborn genetic diseases 2022-06-15 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
PreventionGenetics, part of Exact Sciences RCV003892519 SCV004711269 likely benign AMT-related condition 2019-06-18 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. RCV000669300 SCV001456315 likely benign Non-ketotic hyperglycinemia 2020-09-16 no assertion criteria provided clinical testing

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