ClinVar Miner

Submissions for variant NM_001099274.3(TINF2):c.1166T>C (p.Ile389Thr)

gnomAD frequency: 0.00030  dbSNP: rs192423622
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000465078 SCV000557253 likely benign Dyskeratosis congenita 2024-12-10 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821320 SCV002070639 uncertain significance not specified 2019-06-24 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000465078 SCV002536456 uncertain significance Dyskeratosis congenita 2021-12-24 criteria provided, single submitter curation
GeneDx RCV004721382 SCV005327640 uncertain significance not provided 2024-03-08 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Identified in individual(s) with colorectal cancer and in healthy control(s) (PMID: 29891727, 29641532); This variant is associated with the following publications: (PMID: 29641532, 29891727)
PreventionGenetics, part of Exact Sciences RCV003970312 SCV004783826 likely benign TINF2-related disorder 2022-09-27 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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