Submissions for variant NM_001370259.2(MEN1):c.236C>G (p.Pro79Arg) (rs1555166557)

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Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000632130	SCV000753234	uncertain significance	Multiple endocrine neoplasia, type 1	2019-04-04	criteria provided, single submitter	clinical testing	This sequence change replaces proline with arginine at codon 79 of the MEN1 protein (p.Pro79Arg). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and arginine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MEN1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Mendelics	RCV000632130	SCV000838461	uncertain significance	Multiple endocrine neoplasia, type 1	2018-07-02	criteria provided, single submitter	clinical testing

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