ClinVar Miner

Submissions for variant NM_005629.4(SLC6A8):c.1512G>T (p.Met504Ile)

gnomAD frequency: 0.00001  dbSNP: rs782325571
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001837697 SCV002098293 uncertain significance not provided 2021-08-18 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; This variant is associated with the following publications: (PMID: 23660394)
Labcorp Genetics (formerly Invitae), Labcorp RCV002542813 SCV003446137 likely benign Creatine transporter deficiency 2023-11-02 criteria provided, single submitter clinical testing

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