ClinVar Miner

Submissions for variant NM_000391.4(TPP1):c.1009A>C (p.Ile337Leu)

dbSNP: rs984125804
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001364830 SCV001561012 uncertain significance not provided 2021-08-13 criteria provided, single submitter clinical testing
GeneDx RCV001364830 SCV002574323 uncertain significance not provided 2022-03-14 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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

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