ClinVar Miner

Submissions for variant NM_004958.4(MTOR):c.6752G>A (p.Arg2251Gln)

gnomAD frequency: 0.00001  dbSNP: rs1642555959
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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 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

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