ClinVar Miner

Submissions for variant NM_004958.4(MTOR):c.4382T>C (p.Val1461Ala)

gnomAD frequency: 0.00001  dbSNP: rs761536364
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Brain Malformations Variant Curation Expert Panel RCV001836899 SCV001949982 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.4382T>C (NM_004958.4) variant in MTOR is a missense variant predicted to cause substitution of (p.Val1461Ala). This variant is absent from gnomAD v2.1.1 (PM2_Supporting). 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). This variant resides within the kinase domain of MTOR that is defined as a critical functional domain by the ClinGen BMEP (PMIDs: 23322780, 27482884, 21210909) (PM1_Supporting). 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, PP2, PM1_P; 3 points (VCEP specifications version 1; Approved: 1/31/2021)
Labcorp Genetics (formerly Invitae), Labcorp RCV000817032 SCV000957568 benign not provided 2023-11-27 criteria provided, single submitter clinical testing

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