ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.395C>G (p.Thr132Arg)

dbSNP: rs587783003
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000985647 SCV001134042 likely pathogenic not provided 2019-04-30 criteria provided, single submitter clinical testing Not found in the total gnomAD dataset, and the data are high quality. Found in at least one symptomatic patient. Predicted to have a damaging effect on the protein. Assessment of experimental evidence suggests this variant results in abnormal protein function.
CeGaT Center for Human Genetics Tuebingen RCV000985647 SCV004811855 uncertain significance not provided 2024-03-01 criteria provided, single submitter clinical testing BTD: PM2, PM5, PM3:Supporting
Molecular Genetics Diagnostic Laboratory, Detroit Medical Center University Laboratories RCV000144057 SCV000189130 pathogenic Biotinidase deficiency no assertion criteria provided clinical testing

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