ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.1142T>C (p.Met381Thr)

gnomAD frequency: 0.00056  dbSNP: rs149730454
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000552913 SCV000632513 likely benign Renal carnitine transport defect 2025-01-08 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001509256 SCV001715869 uncertain significance not provided 2020-11-09 criteria provided, single submitter clinical testing
GeneDx RCV001509256 SCV001795704 uncertain significance not provided 2020-05-07 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV000552913 SCV002055768 uncertain significance Renal carnitine transport defect 2021-07-15 criteria provided, single submitter clinical testing
Giacomini Lab, University of California, San Francisco RCV000552913 SCV002576639 likely benign Renal carnitine transport defect 2022-10-03 criteria provided, single submitter research
Natera, Inc. RCV001274337 SCV001458336 uncertain significance Decreased circulating carnitine concentration 2019-11-11 no assertion criteria provided clinical testing

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