ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.1511G>A (p.Ser504Asn)

dbSNP: rs756366940
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000818645 SCV000959269 uncertain significance Neurofibromatosis, type 2 2022-07-26 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 661260). 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. 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 serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 504 of the NF2 protein (p.Ser504Asn).

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