ClinVar Miner

Submissions for variant NM_001370259.2(MEN1):c.1416C>T (p.Gly472=)

gnomAD frequency: 0.00004  dbSNP: rs764509990
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000557060 SCV000628048 likely benign Multiple endocrine neoplasia, type 1 2025-01-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV000567684 SCV000673659 likely benign Hereditary cancer-predisposing syndrome 2016-04-15 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.
All of Us Research Program, National Institutes of Health RCV000557060 SCV004830586 likely benign Multiple endocrine neoplasia, type 1 2024-02-05 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV005000127 SCV005623331 uncertain significance not provided 2024-09-17 criteria provided, single submitter clinical testing The MEN1 c.1416C>T (p.Gly472=) synonymous variant has not been reported in individuals with MEN1-related conditions in the published literature. The frequency of this variant in the general population, 0.000088 (3/34216 chromosomes (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is uninformative in the assessment of its pathogenicity. Analysis of this variant using software algorithms for the prediction of the effect of nucleotide changes on splicing yielded predictions that this variant does not affect MEN1 mRNA splicing. Based on the available information, we are unable to determine the clinical significance of this variant.

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