ClinVar Miner

Submissions for variant NM_003235.5(TG):c.3176T>C (p.Ile1059Thr)

gnomAD frequency: 0.00001  dbSNP: rs1016185504
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001755683 SCV002005289 uncertain significance not provided 2021-02-10 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); 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
Baylor Genetics RCV003147652 SCV003836230 uncertain significance Iodotyrosyl coupling defect 2022-03-07 criteria provided, single submitter clinical testing

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