ClinVar Miner

Submissions for variant NM_002303.6(LEPR):c.866C>T (p.Ser289Leu)

gnomAD frequency: 0.00004  dbSNP: rs760392591
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002050590 SCV002111808 likely benign not provided 2023-11-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004734287 SCV005360750 uncertain significance LEPR-related disorder 2024-02-13 no assertion criteria provided clinical testing The LEPR c.866C>T variant is predicted to result in the amino acid substitution p.Ser289Leu. This variant has been reported in the heterozygous state in a patient with severe obesity, although pathogenicity was not established (Courbage et al. 2021. PubMed ID: 34097736). This variant is reported in 0.024% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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