Submissions for variant NM_001370259.2(MEN1):c.803A>G (p.Tyr268Cys)

gnomAD frequency: 0.00006  dbSNP: rs773500082

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000199390	SCV000255206	likely benign	Multiple endocrine neoplasia, type 1	2025-01-28	criteria provided, single submitter	clinical testing
Mendelics	RCV000199390	SCV000838455	uncertain significance	Multiple endocrine neoplasia, type 1	2018-07-02	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001027095	SCV001189600	benign	Hereditary cancer-predisposing syndrome	2023-07-24	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.
Institute of Human Genetics, University of Leipzig Medical Center	RCV000199390	SCV001428901	uncertain significance	Multiple endocrine neoplasia, type 1	2018-04-17	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000199390	SCV002814027	uncertain significance	Multiple endocrine neoplasia, type 1	2022-05-16	criteria provided, single submitter	clinical testing
GeneDx	RCV003148675	SCV003837362	uncertain significance	not provided	2023-09-14	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Observed in individuals suspected to have MEN1 (Romanet et al., 2019); This variant is associated with the following publications: (PMID: 12874027, 30869828, 34326862)