ClinVar Miner

Submissions for variant NM_000230.3(LEP):c.280G>A (p.Val94Met)

gnomAD frequency: 0.02565  dbSNP: rs17151919
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000394361 SCV000466629 likely benign Obesity due to congenital leptin deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000306659 SCV000466630 likely benign Monogenic Non-Syndromic Obesity 2016-06-14 criteria provided, single submitter clinical testing
Personalized Diabetes Medicine Program, University of Maryland School of Medicine RCV000445399 SCV000537048 benign Monogenic diabetes 2019-01-25 criteria provided, single submitter research ACMG criteria: BA1 (8.5% in Africans in gnomAD), BS2 (104 homo in gnomAD, 191 cases and 210 controls in T2DM), BP4 (9 predictors, Revel score 0.168)=benign
Invitae RCV000947067 SCV001093232 benign not provided 2024-01-21 criteria provided, single submitter clinical testing
GeneDx RCV000947067 SCV001839042 benign not provided 2018-12-24 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 32917775)

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