ClinVar Miner

Submissions for variant NM_001370259.2(MEN1):c.1386C>A (p.Ala462=)

gnomAD frequency: 0.00004  dbSNP: rs771827808
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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 RCV000542606 SCV000628041 likely benign Multiple endocrine neoplasia, type 1 2024-05-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002395299 SCV002702609 likely benign Hereditary cancer-predisposing syndrome 2020-01-07 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 RCV000542606 SCV004818756 likely benign Multiple endocrine neoplasia, type 1 2023-03-23 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000542606 SCV005898290 benign Multiple endocrine neoplasia, type 1 2024-11-05 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.

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