ClinVar Miner

Submissions for variant NM_001370259.2(MEN1):c.492C>T (p.Ala164=)

gnomAD frequency: 0.00010  dbSNP: rs146759807
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000030204 SCV000166710 likely benign Multiple endocrine neoplasia, type 1 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV000610718 SCV000729821 likely benign not specified 2017-04-11 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.
Counsyl RCV000030204 SCV000785195 likely benign Multiple endocrine neoplasia, type 1 2017-06-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV001023275 SCV001185128 likely benign Hereditary cancer-predisposing syndrome 2015-09-17 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.
Sema4, Sema4 RCV001023275 SCV002530071 likely benign Hereditary cancer-predisposing syndrome 2022-01-04 criteria provided, single submitter curation
Myriad Genetics, Inc. RCV000030204 SCV004018045 benign Multiple endocrine neoplasia, type 1 2023-04-17 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.
All of Us Research Program, National Institutes of Health RCV000030204 SCV004815994 likely benign Multiple endocrine neoplasia, type 1 2023-12-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000030204 SCV000052871 not provided Multiple endocrine neoplasia, type 1 2015-10-02 no assertion provided clinical testing

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