Submissions for variant NM_002303.6(LEPR):c.2096C>T (p.Thr699Met)

gnomAD frequency: 0.01048  dbSNP: rs34499590

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Personalized Diabetes Medicine Program, University of Maryland School of Medicine	RCV000445476	SCV000536949	benign	Monogenic diabetes	2018-12-21	criteria provided, single submitter	research	ACMG criteria: BA1 (3.6% in Africans in gnomAD), BS2 (15 homozygotes in gnomAD)= benign (BP4/3 predictors + PP3/7 predictors + REVEL: 0.271: conflicting evidence, not using)
Illumina Laboratory Services, Illumina	RCV001100147	SCV001256653	benign	Obesity due to leptin receptor gene deficiency	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
GeneDx	RCV001675893	SCV001895790	benign	not provided	2021-05-11	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001675893	SCV002405257	benign	not provided	2024-01-23	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001675893	SCV005280293	benign	not provided		criteria provided, single submitter	not provided