ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.122G>A (p.Trp41Ter) (rs1555986860)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523383 SCV000617596 pathogenic not provided 2017-05-05 criteria provided, single submitter clinical testing The W41X nonsense variant in the NF2 gene has been reported previously in association withneurofibromatosis type 2 (Evans et al., 1998; Bonne et al., 2016). This pathogenic variant ispredicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Additionally, The W41X variant is not observed in large population cohorts(Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Therefore, theW41X variant is pathogenic
Invitae RCV000811191 SCV000951445 pathogenic Neurofibromatosis, type 2 2018-09-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp41*) 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 several individuals affected with neurofibromatosis, type 2 (PMID: 9643284, 22295085, 27704245). ClinVar contains an entry for this variant (Variation ID: 449433). 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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