ClinVar Miner

Submissions for variant NM_004958.4(MTOR):c.1855C>T (p.Arg619Cys)

gnomAD frequency: 0.00003  dbSNP: rs199712134
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001572590 SCV001797258 likely benign not provided 2020-03-03 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect
Labcorp Genetics (formerly Invitae), Labcorp RCV001572590 SCV002445878 likely benign not provided 2024-10-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003394149 SCV004120057 uncertain significance MTOR-related disorder 2023-01-09 criteria provided, single submitter clinical testing The MTOR c.1855C>T variant is predicted to result in the amino acid substitution p.Arg619Cys. To our knowledge, this variant has not been reported in the literature in individuals with MTOR-related disorders. This variant is reported in 0.0079% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/1-11298606-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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