ClinVar Miner

Submissions for variant NM_001370259.2(MEN1):c.1408C>G (p.Pro470Ala)

dbSNP: rs1941557896
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001069437 SCV001234601 uncertain significance Multiple endocrine neoplasia, type 1 2019-04-24 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with MEN1-related conditions. 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. 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 tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with alanine at codon 470 of the MEN1 protein (p.Pro470Ala). The proline residue is weakly conserved and there is a small physicochemical difference between proline and alanine.

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