ClinVar Miner

Submissions for variant NM_000436.4(OXCT1):c.650G>T (p.Arg217Leu)

gnomAD frequency: 0.00320  dbSNP: rs142383658
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001002072 SCV001030442 benign Succinyl-CoA acetoacetate transferase deficiency 2024-12-02 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001002072 SCV001159909 likely benign Succinyl-CoA acetoacetate transferase deficiency 2018-07-12 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV004792569 SCV005411791 uncertain significance not provided 2023-10-18 criteria provided, single submitter clinical testing BS1
PreventionGenetics, part of Exact Sciences RCV003975585 SCV004791089 benign OXCT1-related disorder 2020-05-11 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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