Submissions for variant NM_001370259.2(MEN1):c.1170G>A (p.Pro390=)

gnomAD frequency: 0.00003  dbSNP: rs587780841

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000199870	SCV000252882	benign	Multiple endocrine neoplasia, type 1	2025-02-02	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000569118	SCV000673627	likely benign	Hereditary cancer-predisposing syndrome	2015-09-25	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.
Counsyl	RCV000199870	SCV000785190	likely benign	Multiple endocrine neoplasia, type 1	2017-05-25	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000729820	SCV000857511	likely benign	not specified	2017-10-12	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000199870	SCV001156565	benign	Multiple endocrine neoplasia, type 1	2018-08-15	criteria provided, single submitter	clinical testing
GeneDx	RCV001706182	SCV001865641	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000569118	SCV002530045	benign	Hereditary cancer-predisposing syndrome	2021-12-29	criteria provided, single submitter	curation
Myriad Genetics, Inc.	RCV000199870	SCV004018034	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.
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000729820	SCV004220024	benign	not specified	2022-06-09	criteria provided, single submitter	clinical testing	The frequency of this variant in the general population (http://gnomad.broadinstitute.org) is higher than would generally be expected for pathogenic variants in this gene. Computational tools yielded predictions that this variant is unlikely to have an effect on normal RNA splicing. This nucleotide position exhibits low evolutionary conservation.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000729820	SCV004241733	benign	not specified	2023-12-27	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000199870	SCV004359146	likely benign	Multiple endocrine neoplasia, type 1	2022-11-06	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV000199870	SCV004821467	likely benign	Multiple endocrine neoplasia, type 1	2024-01-11	criteria provided, single submitter	clinical testing