ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.1732A>G (p.Lys578Glu)

dbSNP: rs2147123687
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001371607 SCV001568178 uncertain significance Neurofibromatosis, type 2 2022-04-11 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1061943). This variant has not been reported in the literature in individuals affected with NF2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 578 of the NF2 protein (p.Lys578Glu).
CeGaT Center for Human Genetics Tuebingen RCV002264285 SCV002544717 uncertain significance not provided 2022-06-01 criteria provided, single submitter clinical testing NF2: PM2, PS4:Supporting

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