ClinVar Miner

Submissions for variant NM_004958.4(MTOR):c.4835G>A (p.Arg1612Gln)

gnomAD frequency: 0.00003  dbSNP: rs771517712
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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 RCV001880961 SCV002144654 benign not provided 2023-10-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003407878 SCV004109770 uncertain significance MTOR-related disorder 2022-09-19 criteria provided, single submitter clinical testing The MTOR c.4835G>A variant is predicted to result in the amino acid substitution p.Arg1612Gln. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.00088% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/1-11204742-C-T). 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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