ClinVar Miner

Submissions for variant NM_001064.4(TKT):c.1177T>C (p.Phe393Leu)

gnomAD frequency: 0.00151  dbSNP: rs138820989
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV002074045 SCV002010697 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002074045 SCV002361329 likely benign not provided 2021-10-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003931331 SCV004746879 likely benign TKT-related disorder 2020-08-28 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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