ClinVar Miner

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

dbSNP: rs1601649018
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000822317 SCV000963115 pathogenic Neurofibromatosis, type 2 2022-11-29 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. Loss-of-function variants in NF2 are known to be pathogenic (PMID: 9643284, 16983642). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 664255). This variant is also known as AGAGAGGAG>AGGAG in codon 445-446. This premature translational stop signal has been observed in individuals with neurofibromatosis type 2 (PMID: 8755919; Invitae). This variant is not present in population databases (gnomAD no frequency).
GeneDx RCV003117609 SCV003798903 pathogenic not provided 2023-02-01 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Observed in individuals with a personal or family history consistent with pathogenic variants in this gene (Ruttledge et al., 1996); Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 8755919, 31618753)

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