ClinVar Miner

Submissions for variant NM_004958.4(MTOR):c.3646A>G (p.Ile1216Val)

gnomAD frequency: 0.00002  dbSNP: rs760415071
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Brain Malformations Variant Curation Expert Panel RCV001836889 SCV001949977 likely benign Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes 2022-02-12 reviewed by expert panel curation The c.3646A>G (NM_004958.4) variant in MTOR is a missense variant predicted to cause substitution of (p.Ile1216Val). The highest population minor allele frequency in gnomAD v2.1.1 is 0.0004197 in Other population, which is higher than the ClinGen BMEP threshold ([>0.00037]) for BS1, and therefore meets this criterion (BS1). 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 Likely benign 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: BS1, PP2; -3 points (VCEP specifications version 1; Approved: 1/31/2021)
Invitae RCV000799540 SCV000939208 likely benign not provided 2023-12-14 criteria provided, single submitter clinical testing
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001252322 SCV001428074 likely benign Intellectual disability 2019-01-01 no assertion criteria provided clinical testing

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