ClinVar Miner

Submissions for variant NM_004958.4(MTOR):c.831G>T (p.Met277Ile)

gnomAD frequency: 0.00004  dbSNP: rs752049917
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000228713 SCV000288777 likely benign not provided 2025-01-25 criteria provided, single submitter clinical testing
GeneDx RCV000228713 SCV001860974 benign not provided 2020-08-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003977666 SCV004788296 likely benign MTOR-related disorder 2022-03-24 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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