ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.670-6C>A (rs77461664)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000657085 SCV000260413 benign not provided 2019-02-06 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000454964 SCV000539619 uncertain significance not specified 2016-06-23 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Intronic, reported in 1 proband.
GeneDx RCV000657085 SCV000568651 uncertain significance not provided 2017-09-21 criteria provided, single submitter clinical testing This variant is denoted MEN1 c.655-6C>A or IVS3-6C>A and consists of a C>A nucleotide substitution at the -6 position of intron 3 of the MEN1 gene. Multiple in silico models predict this variant to destroy the nearby natural splice acceptor site and to possibly cause abnormal gene splicing. However, in the absence of RNA or functional studies, the actual effect of this variant is unknown.? This variant has been observed in at least one kindred with a diagnosis or features of Multiple Endocrine Neoplasia type 1 (J?ger 2006). MEN1 c.655-6C>A was observed at an allele frequency of 0.02% (8/34,394) in individuals of Latino ancestry in large population cohorts (Lek 2016).The cytosine (C) nucleotide that is altered is not conserved. Based on currently available evidence, it is unclear whether MEN1 c.655-6C>A is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Mendelics RCV000988573 SCV001138343 benign Multiple endocrine neoplasia, type 1 2019-05-28 criteria provided, single submitter clinical testing

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