ClinVar Miner

Submissions for variant NM_001370259.2(MEN1):c.403A>C (p.Lys135Gln)

dbSNP: rs121913034
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000226206 SCV000291292 uncertain significance Multiple endocrine neoplasia, type 1 2021-03-22 criteria provided, single submitter clinical testing In summary, this is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. This sequence change replaces lysine with glutamine at codon 135 of the MEN1 protein (p.Lys135Gln). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and glutamine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a 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.

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