ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.1334_1337del (p.Glu445fs) (rs1601649018)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000822317 SCV000963115 pathogenic Neurofibromatosis, type 2 2018-11-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu445Glyfs*9) in the NF2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in multiple individuals affected with neurofibromatosis type 2 (PMID: 8755919, Invitae). This variant is also known as AGAGAGGAG>AGGAG in codon 445-446 in the literature. Loss-of-function variants in NF2 are known to be pathogenic (PMID: 9643284, 16983642). For these reasons, this variant has been classified as Pathogenic.

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