ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.431dup (p.Tyr144Ter)

dbSNP: rs2065831369
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001060499 SCV001225192 pathogenic Neurofibromatosis, type 2 2019-02-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr144*) in the NF2 gene. It is expected to result in an absent or disrupted protein product. 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 nonsense change has been observed in individuals affected with neurofibromatosis type 2 (PMID: 9817921, 15684865 , 18033041). This variant is not present in population databases (ExAC no frequency).
PreventionGenetics, part of Exact Sciences RCV003413876 SCV004118417 pathogenic NF2-related condition 2023-01-23 criteria provided, single submitter clinical testing The NF2 c.431dupA variant is predicted to result in premature protein termination (p.Tyr144*). This variant was reported in an individual with neurofibromatosis type 2 (Patient 150 in Kluwe et al. 1998. PubMed ID: 9817921). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Nonsense variants in NF2 are expected to be pathogenic. This variant is interpreted as pathogenic.

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