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: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001521462 SCV001730811 benign Frontotemporal dementia 2023-12-27 criteria provided, single submitter clinical testing
GeneDx RCV001685408 SCV001896009 benign not provided 2020-12-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003956205 SCV004770103 likely benign MAPT-related condition 2023-02-23 criteria provided, single submitter 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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