ClinVar Miner

Submissions for variant NM_001370259.2(MEN1):c.525_526insTT (p.Ala176fs)

dbSNP: rs1941864588
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001223479 SCV001395631 pathogenic Multiple endocrine neoplasia, type 1 2021-05-31 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with MEN1-related conditions (PMID: 32190804). ClinVar contains an entry for this variant (Variation ID: 951536). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ala176Leufs*10) in the MEN1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MEN1 are known to be pathogenic (PMID: 12112656, 17853334).

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