ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.3_14del (p.Met1_Ala4del)

dbSNP: rs1351718417
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000686587 SCV000814111 uncertain significance Neurofibromatosis, type 2 2023-07-20 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.004%). 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 566704). This variant has not been reported in the literature in individuals affected with NF2-related conditions. This sequence change affects the initiator methionine of the NF2 mRNA. The next in-frame methionine is located at codon 9.

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