ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.851A>G (p.Lys284Arg)

dbSNP: rs764034925
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000686768 SCV000814301 uncertain significance Neurofibromatosis, type 2 2022-01-07 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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: 566844). This variant has not been reported in the literature in individuals affected with NF2-related conditions. This variant is present in population databases (rs764034925, gnomAD 0.0009%). This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 284 of the NF2 protein (p.Lys284Arg).
Revvity Omics, Revvity Omics RCV000686768 SCV003815871 uncertain significance Neurofibromatosis, type 2 2022-08-18 criteria provided, single submitter clinical testing

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