ClinVar Miner

Submissions for variant NM_001330588.2(TPP2):c.2610C>T (p.Gly870=)

gnomAD frequency: 0.00044  dbSNP: rs150615380
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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 RCV001469270 SCV001673348 likely benign Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency 2022-09-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003948314 SCV004759706 likely benign TPP2-related disorder 2020-12-03 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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