ClinVar Miner

Submissions for variant NM_001370259.2(MEN1):c.1701C>T (p.Ala567=)

gnomAD frequency: 0.00001  dbSNP: rs757417271
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000491209 SCV000579684 likely benign Hereditary cancer-predisposing syndrome 2018-02-14 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001500075 SCV001704854 likely benign Multiple endocrine neoplasia, type 1 2022-02-02 criteria provided, single submitter clinical testing
GeneDx RCV000553378 SCV003761879 uncertain significance not provided 2022-07-29 criteria provided, single submitter clinical testing In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge; Also known as c.1716C>T; p.(A572=)

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