ClinVar Miner

Submissions for variant NM_012254.3(SLC27A5):c.1616T>C (p.Met539Thr)

gnomAD frequency: 0.00437  dbSNP: rs147464959
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000380668 SCV000338429 likely benign not specified 2015-12-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000954520 SCV001101156 likely benign not provided 2025-01-06 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000954520 SCV005206098 likely benign not provided criteria provided, single submitter not provided
Mayo Clinic Laboratories, Mayo Clinic RCV000954520 SCV005410001 uncertain significance not provided 2023-08-30 criteria provided, single submitter clinical testing BP4
PreventionGenetics, part of Exact Sciences RCV003940009 SCV004747371 likely benign SLC27A5-related disorder 2021-03-04 no assertion criteria provided 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).

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