ClinVar Miner

Submissions for variant NM_004958.4(MTOR):c.2069C>T (p.Ala690Val)

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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 RCV003063035 SCV003450669 uncertain significance not provided 2022-06-19 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C25"). This missense change has been observed in individual(s) with focal epilepsy (PMID: 32086284). This variant is present in population databases (rs779998245, gnomAD 0.006%). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 690 of the MTOR protein (p.Ala690Val).
GeneDx RCV003063035 SCV004023820 likely benign not provided 2024-09-17 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Ambry Genetics RCV004960951 SCV005450379 uncertain significance Inborn genetic diseases 2024-07-19 criteria provided, single submitter clinical testing The c.2069C>T (p.A690V) alteration is located in exon 13 (coding exon 12) of the MTOR gene. This alteration results from a C to T substitution at nucleotide position 2069, causing the alanine (A) at amino acid position 690 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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