Submissions for variant NM_002303.6(LEPR):c.1968G>C (p.Lys656Asn)

dbSNP: rs1805094

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000266874	SCV000358817	likely benign	Monogenic Non-Syndromic Obesity	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000321944	SCV000358818	benign	Obesity due to leptin receptor gene deficiency	2018-03-06	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000321944	SCV000743424	benign	Obesity due to leptin receptor gene deficiency	2017-07-28	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000712216	SCV000842654	benign	not provided	2018-02-12	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000730960	SCV000858729	benign	not specified	2017-12-19	criteria provided, single submitter	clinical testing
GeneDx	RCV000712216	SCV001936445	benign	not provided	2018-10-16	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 20814201, 22530350, 23315873, 23266707, 18413223, 14970363, 20185531, 12006639, 9175732)
Labcorp Genetics (formerly Invitae), Labcorp	RCV000712216	SCV002408869	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000321944	SCV002799211	likely benign	Obesity due to leptin receptor gene deficiency	2021-10-18	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000712216	SCV005258557	likely benign	not provided		criteria provided, single submitter	not provided
OMIM	RCV000009050	SCV000029267	benign	LEPTIN RECEPTOR POLYMORPHISM	2001-07-01	no assertion criteria provided	literature only
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000321944	SCV000734050	benign	Obesity due to leptin receptor gene deficiency		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000730960	SCV001979277	benign	not specified		no assertion criteria provided	clinical testing