Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV001837030 | SCV001949969 | uncertain significance | Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes | 2022-02-17 | reviewed by expert panel | curation | The c.997C>T (NM_004958.4) variant in MTOR is a synonymous (silent) variant in MTOR. This variant is absent from gnomAD v2.1.1 (PM2_Supporting). The results from in silico splicing predictors MaxEntScan, spliceAI and varSEAK support that this variant does not affect splicing (BP4). In summary, this variant meets the criteria to be classified as Uncertain significance for mosaic autosomal dominant overgrowth with or without cerebral malformations due to abnormalities in MTOR-pathway genes based on the ACMG/AMP criteria applied, as specified by the ClinGen Brain Malformations Expert Panel: PM2_P, BP4; 0 points (VCEP specifications version 1; Approved: 1/31/2021) |