ClinVar Miner

Submissions for variant NM_004958.4(MTOR):c.272C>T (p.Ala91Val)

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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 RCV002998965 SCV003293118 benign not provided 2022-08-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003984312 SCV004800376 uncertain significance MTOR-related disorder 2024-02-21 criteria provided, single submitter clinical testing The MTOR c.272C>T variant is predicted to result in the amino acid substitution p.Ala91Val. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. It is located at the first base of an exon; however, available splicing prediction algorithms do not predict it will disrupt splicing (SpliceAI, Jaganathan et al. 2019. PubMed ID: 30661751). 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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