Submissions for variant NM_001370259.2(MEN1):c.1540C>T (p.Pro514Ser)

dbSNP: rs150202288

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000687699	SCV000815284	likely benign	Multiple endocrine neoplasia, type 1	2024-08-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002397376	SCV002705888	likely benign	Hereditary cancer-predisposing syndrome	2022-08-22	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	RCV005250090	SCV005900742	uncertain significance	not provided	2024-09-22	criteria provided, single submitter	clinical testing	Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: Ganakammal2020[article])