ClinVar Miner

Submissions for variant NM_004958.4(MTOR):c.5849G>T (p.Arg1950Ile)

dbSNP: rs1052713389
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001773999 SCV001994470 uncertain significance not provided 2024-07-23 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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