ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.85C>T (p.Arg29Ter) (rs794728615)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000474533 SCV000541208 pathogenic Multiple endocrine neoplasia, type 1 2019-06-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 29 (p.Arg29*) of 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. This particular variant has been reported in the literature in individual with multiple endocrine neoplasia type 1 (PMID: 24997771, 22549346) and to segregate with multiple endocrine neoplasia type 1 in two families (PMID: 9832038, 10395246). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV000491222 SCV000579667 pathogenic Hereditary cancer-predisposing syndrome 2016-04-16 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)

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