ClinVar Miner

Submissions for variant NM_001370259.2(MEN1):c.491C>A (p.Ala164Asp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001220086 SCV001392059 likely pathogenic Multiple endocrine neoplasia, type 1 2019-05-16 criteria provided, single submitter clinical testing This sequence change replaces alanine with aspartic acid at codon 164 of the MEN1 protein (p.Ala164Asp). The alanine residue is highly conserved and there is a moderate physicochemical difference between alanine and aspartic acid. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with multiple endocrine neoplasia type 1 (PMID: 9463336, 20231234, 12112656, 25309785). This variant has been reported not to substantially affect the interaction between menin and RPA2 and JunD (PMID: 12509449). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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