Submissions for variant NM_001370259.2(MEN1):c.1428G>C (p.Arg476=)

dbSNP: rs1555163730

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000536333	SCV000628049	likely benign	Multiple endocrine neoplasia, type 1	2025-01-13	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV002256344	SCV002530052	likely benign	Hereditary cancer-predisposing syndrome	2021-05-14	criteria provided, single submitter	curation
Ambry Genetics	RCV002256344	SCV002698471	likely benign	Hereditary cancer-predisposing syndrome	2021-05-06	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.
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV000536333	SCV005880798	benign	Multiple endocrine neoplasia, type 1	2025-02-01	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV000536333	SCV005896989	benign	Multiple endocrine neoplasia, type 1	2024-11-05	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.