ClinVar Miner

Submissions for variant NM_001330588.2(TPP2):c.666C>T (p.Thr222=)

gnomAD frequency: 0.00084  dbSNP: rs149008480
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000970768 SCV001118367 benign Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency 2023-11-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003918441 SCV004735882 likely benign TPP2-related disorder 2022-05-10 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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