Submissions for variant NM_001370259.2(MEN1):c.30G>T (p.Leu10=)

gnomAD frequency: 0.00111  dbSNP: rs371192390

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000123385	SCV000166709	benign	Multiple endocrine neoplasia, type 1	2025-02-02	criteria provided, single submitter	clinical testing
Counsyl	RCV000123385	SCV000487842	likely benign	Multiple endocrine neoplasia, type 1	2015-11-21	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000491878	SCV000579697	likely benign	Hereditary cancer-predisposing syndrome	2015-08-06	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
GeneDx	RCV000609004	SCV000729149	likely benign	not specified	2017-06-09	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
PreventionGenetics, part of Exact Sciences	RCV000609004	SCV000805929	benign	not specified	2017-05-30	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000757460	SCV000885693	benign	not provided	2018-03-26	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000757460	SCV001148325	likely benign	not provided	2024-11-01	criteria provided, single submitter	clinical testing	MEN1: BP4, BP7
Illumina Laboratory Services, Illumina	RCV000123385	SCV001265918	benign	Multiple endocrine neoplasia, type 1	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.
Illumina Laboratory Services, Illumina	RCV001108653	SCV001265919	uncertain significance	Hyperparathyroidism	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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	RCV000757460	SCV002010483	likely benign	not provided	2021-11-03	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000491878	SCV002530066	benign	Hereditary cancer-predisposing syndrome	2021-05-10	criteria provided, single submitter	curation
Myriad Genetics, Inc.	RCV000123385	SCV004018038	benign	Multiple endocrine neoplasia, type 1	2023-04-17	criteria provided, single submitter	clinical testing	This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.
Color Diagnostics, LLC DBA Color Health	RCV000123385	SCV004359155	benign	Multiple endocrine neoplasia, type 1	2022-09-20	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV000123385	SCV004836548	benign	Multiple endocrine neoplasia, type 1	2024-02-05	criteria provided, single submitter	clinical testing