Submissions for variant NM_001370259.2(MEN1):c.512G>A (p.Arg171Gln)

gnomAD frequency: 0.01309  dbSNP: rs607969

Total submissions: 29

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000082337	SCV000114300	benign	not specified	2014-08-20	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000119143	SCV000153859	benign	Multiple endocrine neoplasia, type 1	2024-02-01	criteria provided, single submitter	clinical testing
CSER _CC_NCGL, University of Washington	RCV000119143	SCV000212193	likely benign	Multiple endocrine neoplasia, type 1	2015-03-11	criteria provided, single submitter	research
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000202713	SCV000258235	benign	Multiple endocrine neoplasia	2015-05-05	criteria provided, single submitter	clinical testing
Vantari Genetics	RCV000210794	SCV000267040	benign	Hereditary cancer-predisposing syndrome	2016-02-04	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000082337	SCV000303133	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000119143	SCV000373101	benign	Multiple endocrine neoplasia, type 1	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.
Counsyl	RCV000119143	SCV000488436	benign	Multiple endocrine neoplasia, type 1	2016-03-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000210794	SCV000579620	benign	Hereditary cancer-predisposing syndrome	2015-06-19	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000034787	SCV000604202	benign	not provided	2023-09-28	criteria provided, single submitter	clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000119143	SCV000781719	uncertain significance	Multiple endocrine neoplasia, type 1	2016-11-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001106456	SCV001263523	likely benign	Hyperparathyroidism	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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Athena Diagnostics	RCV000082337	SCV001476549	benign	not specified	2020-06-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000034787	SCV001911032	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 22995991, 20981092, 21521296, 22703879, 24997771, 21819486, 24728327, 18221402, 27153395, 30324798, 30869828)
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	RCV000034787	SCV002009388	likely benign	not provided	2021-11-03	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000034787	SCV002497131	benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	MEN1: BS1, BS2
Sema4, Sema4	RCV000210794	SCV002530073	benign	Hereditary cancer-predisposing syndrome	2020-02-24	criteria provided, single submitter	curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000082337	SCV002549979	benign	not specified	2023-08-15	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV000119143	SCV004015822	benign	Multiple endocrine neoplasia, type 1	2023-07-07	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV000119143	SCV004018033	likely benign	Multiple endocrine neoplasia, type 1	2023-04-17	criteria provided, single submitter	clinical testing	This variant is considered likely benign. This variant has been observed at a population frequency that is significantly greater than expected given the associated disease prevalence and penetrance.
Color Diagnostics, LLC DBA Color Health	RCV000119143	SCV004359150	benign	Multiple endocrine neoplasia, type 1	2019-03-29	criteria provided, single submitter	clinical testing
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000034787	SCV000043288	no known pathogenicity	not provided	2012-07-13	no assertion criteria provided	research	Converted during submission to Benign.
ITMI	RCV000082337	SCV000085510	not provided	not specified	2013-09-19	no assertion provided	reference population
GenomeConnect, ClinGen	RCV000119143	SCV000986894	not provided	Multiple endocrine neoplasia, type 1		no assertion provided	phenotyping only	Variant interpretted as Likely benign and reported on 10/30/2014 by GTR ID 320384. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000082337	SCV001740312	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000082337	SCV001807547	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000034787	SCV001927784	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000034787	SCV001957052	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000082337	SCV002035731	benign	not specified		no assertion criteria provided	clinical testing