ClinVar Miner

Submissions for variant NM_001370259.2(MEN1):c.1387G>A (p.Glu463Lys)

dbSNP: rs748102589
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001222478 SCV001394577 uncertain significance Multiple endocrine neoplasia, type 1 2020-11-24 criteria provided, single submitter clinical testing 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with MEN1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamic acid with lysine at codon 463 of the MEN1 protein (p.Glu463Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine.
Ambry Genetics RCV002393540 SCV002695937 uncertain significance Hereditary cancer-predisposing syndrome 2022-08-29 criteria provided, single submitter clinical testing The p.E463K variant (also known as c.1387G>A), located in coding exon 9 of the MEN1 gene, results from a G to A substitution at nucleotide position 1387. The glutamic acid at codon 463 is replaced by lysine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV001222478 SCV004194472 uncertain significance Multiple endocrine neoplasia, type 1 2023-07-16 criteria provided, single submitter clinical testing

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