ClinVar Miner

Submissions for variant NM_004958.4(MTOR):c.5978A>G (p.Lys1993Arg)

gnomAD frequency: 0.00002  dbSNP: rs373390383
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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 RCV001725208 SCV001960888 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.5978A>G (NM_004958.4) variant in MTOR is a missense variant predicted to cause substitution of (p.Lys1993Arg). 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 a variant of 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 RCV001034197 SCV001197528 benign not provided 2024-02-01 criteria provided, single submitter clinical testing

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