ClinVar Miner

Submissions for variant NM_004958.4(MTOR):c.6040G>A (p.Glu2014Lys)

dbSNP: rs1057519780
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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 RCV003766179 SCV004659997 uncertain significance not provided 2023-02-23 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 2014 of the MTOR protein (p.Glu2014Lys). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MTOR-related conditions. ClinVar contains an entry for this variant (Variation ID: 376131). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt MTOR protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Database of Curated Mutations (DoCM) RCV000440791 SCV000505142 likely pathogenic Transitional cell carcinoma of the bladder 2014-12-26 no assertion criteria provided literature only

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