ClinVar Miner

Submissions for variant NM_004958.4(MTOR):c.3004C>T (p.Arg1002Ter)

dbSNP: rs770601118
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Brain Malformations Variant Curation Expert Panel RCV001837034 SCV001949979 uncertain significance Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes 2022-02-12 reviewed by expert panel curation The c.3004C>T (NM_004958.4) variant in MTOR is a missense variant predicted to cause substitution of (p.Arg1002Ter). 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: No Criteria Met; 0 points (VCEP specifications version 1; Approved: 1/31/2021)

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