ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.1003G>T (p.Glu335Ter)

dbSNP: rs1601643866
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000793709 SCV000933075 pathogenic Neurofibromatosis, type 2 2021-05-01 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in NF2 are known to be pathogenic (PMID: 9643284, 16983642). This variant has not been reported in the literature in individuals with NF2-related disease. ClinVar contains an entry for this variant (Variation ID: 640644). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu335*) in the NF2 gene. It is expected to result in an absent or disrupted protein product.

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