ClinVar Miner

Submissions for variant NM_001377265.1(MAPT):c.176C>T (p.Pro59Leu)

gnomAD frequency: 0.00006  dbSNP: rs143138715
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001521462 SCV001730811 benign Frontotemporal dementia 2024-07-25 criteria provided, single submitter clinical testing
GeneDx RCV001685408 SCV001896009 benign not provided 2020-12-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001685408 SCV005246978 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003956205 SCV004770103 likely benign MAPT-related disorder 2023-02-23 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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