ClinVar Miner

Submissions for variant NM_002303.6(LEPR):c.575A>C (p.Glu192Ala)

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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 RCV002572658 SCV002932714 likely benign not provided 2022-02-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004529152 SCV004104374 uncertain significance LEPR-related disorder 2024-04-05 no assertion criteria provided clinical testing The LEPR c.575A>C variant is predicted to result in the amino acid substitution p.Glu192Ala. This variant was observed in a cohort of individuals with obesity, and in vitro functional studies showed this variant did not reduce protein function and could cause increased function (Supplemental Data Set 3, Shah et al. 2023. PubMed ID: 36864747). This variant is reported in 0.036% 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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