ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.322C>T (p.Arg108Ter) (rs794728647)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182446 SCV000234791 pathogenic not provided 2017-03-07 criteria provided, single submitter clinical testing The R108X nonsense variant in the MEN1 gene has been reported previously in association with multiple endocrine neoplasia type 1 (MEN1) (for examples, see Giraud et al., 1998; Jakobovitz-Picard et al., 2000; Wautot et al., 2002; Jiang et al., 2007). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Based on currently available evidence, we consider R108X to be pathogenic, and its presence consistent with a risk to develop features of multiple endocrine neoplasia type 1
Ambry Genetics RCV000491814 SCV000579657 pathogenic Hereditary cancer-predisposing syndrome 2017-03-28 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Invitae RCV000551465 SCV000628079 pathogenic Multiple endocrine neoplasia, type 1 2017-04-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 108 (p.Arg108*) 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 individuals with multiple endocrine neoplasia type 1 (PMID: 9215690, 17853334, 22470073). This gene is also known as SCG2 in the literature. For these reasons, this variant has been classified as Pathogenic.

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