Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002998965 | SCV003293118 | benign | not provided | 2022-08-09 | criteria provided, single submitter | clinical testing | |
Prevention |
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. |