Submissions for variant NM_001370259.2(MEN1):c.1508G>A (p.Gly503Asp)

gnomAD frequency: 0.00015  dbSNP: rs375804228

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001000155	SCV000166706	benign	Multiple endocrine neoplasia, type 1	2025-01-30	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000491076	SCV000579698	likely benign	Hereditary cancer-predisposing syndrome	2019-04-11	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	RCV000616587	SCV000730548	likely benign	not specified	2017-02-24	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001000155	SCV001156641	likely benign	Multiple endocrine neoplasia, type 1	2019-05-07	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001000155	SCV001262161	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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina	RCV001105230	SCV001262162	likely benign	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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Genetic Services Laboratory, University of Chicago	RCV000616587	SCV002067634	likely benign	not specified	2021-02-24	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000491076	SCV002530055	benign	Hereditary cancer-predisposing syndrome	2020-03-26	criteria provided, single submitter	curation
Fulgent Genetics, Fulgent Genetics	RCV001000155	SCV002813746	likely benign	Multiple endocrine neoplasia, type 1	2022-04-29	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV001000155	SCV005403612	likely benign	Multiple endocrine neoplasia, type 1	2024-08-06	criteria provided, single submitter	clinical testing	This variant is considered likely benign. This variant has been observed at a population frequency that is significantly greater than expected given the associated disease prevalence and penetrance.
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001705900	SCV001931122	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001705900	SCV001952798	likely benign	not provided		no assertion criteria provided	clinical testing