ClinVar Miner

Submissions for variant NM_001370259.2(MEN1):c.1387G>C (p.Glu463Gln) (rs748102589)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001011215 SCV001171512 uncertain significance Hereditary cancer-predisposing syndrome 2018-10-20 criteria provided, single submitter clinical testing Insufficient evidence;Rarity in general population databases (dbsnp, esp, 1000 genomes)
Invitae RCV001049805 SCV001213877 uncertain significance Multiple endocrine neoplasia, type 1 2019-12-03 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with glutamine at codon 463 of the MEN1 protein (p.Glu463Gln). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and glutamine. This variant is present in population databases (rs748102589, ExAC 0.002%). This variant has not been reported in the literature in individuals with MEN1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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.

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