Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV001725210 | SCV001960890 | uncertain significance | Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes | 2022-02-11 | reviewed by expert panel | curation | The c.6752G>A (NM_004958.4) variant in MTOR is a missense variant predicted to cause substitution of (p.Arg2251Gln). MTOR, in which the variant was identified, is defined by the ClinGen Brain Malformations Expert Panel as a gene that has a low rate of benign missense variation and where pathogenic missense variants are a common mechanism of disease (PP2). 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: PP2; 1 point (VCEP specifications version 1; Approved: 1/31/2021) |
Invitae | RCV001064624 | SCV001229534 | likely benign | not provided | 2023-05-18 | criteria provided, single submitter | clinical testing |